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Hemos leído sobre ... Autoinflamatorias

Última actualización: 18 noviembre 2024
 
Hemos leído...
OCTUBRE 2024

  • La Bella S, Loconte R, Attanasi M, Muselli M, Di Donato G, Di Ludovico A, et al.
    Familial Mediterranean fever in children from central-southern Italy: a multicentric retrospective cohort study.
    Clin Rheumatol. 2024 Oct 29. doi: 10.1007/s10067-024-07207-9. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/39470916/

  • Kretzschmar G, Páez LP, Tan Z, Wang J, Gonzalez L, Mugabo CH, et al.
    Normalized Interferon Signatures and Clinical Improvements by IFNAR1 Blocking Antibody (Anifrolumab) in Patients with Type I Interferonopathies.
    J Clin Immunol. 2024 Oct 23;45(1):31. doi: 10.1007/s10875-024-01826-2.
    https://pubmed.ncbi.nlm.nih.gov/39441221/

  • Hofer MJ, Modesti N, Coufal NG, Wang Q, Sase S, Miner JJ, Vanderver A, Bennett ML.
    The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.
    Immunol Rev. 2024 Oct 29. doi: 10.1111/imr.13413. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/39473130/

SEPTIEMBRE 2024

  • Mallo-Miranda MV, Morales-Angulo C.
    Otorhinolaryngological manifestations of autoinflammatory diseases. Systematic review.
    Acta Otorrinolaringol Esp (Engl Ed). 2024 Sep 26:S2173-5735(24)00093-0. doi: 10.1016/j.otoeng.2024.09.005. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/39341593/

  • Murphy R, Moots RJ, Brogan P, Çelik AF, Clement-Jones M, Coulson I, et al.
    British Association of Dermatologists and British Society for Rheumatology living guideline for managing people with Behçets 2024.
    Br J Dermatol. 2024 Sep 10:ljae263. doi: 10.1093/bjd/ljae263. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/39253835/

  • Bourguiba R, Deshayes S, Amaryan G, Kone-Paut I, Belot A, Sarkisyan T, et al.
    Diagnostic delays in familial Mediterranean fever: a Juvenile Inflammatory Rheumatism (JIR) cohort study.
    Rheumatol Int. 2024 Sep 24. doi: 10.1007/s00296-024-05706-1. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/39316109/

  • Hospach T, Blankenburg F, Heinkele A, von Kalle T, Uziel Y, Kallinich T, Rücklová K.
    Protracted febrile myalgia syndrome in children with familial Mediterranean fever - systematic review and a case report
    Pediatr Rheumatol Online J. 2024 Sep 10;22(1):85. doi: 10.1186/s12969-024-01019-6.
    https://pubmed.ncbi.nlm.nih.gov/39256780/

  • Drago E, Bertoni A, Grossi A, Damasio MB, Anfigeno L, Miano M, Papa R, Volpi S, Ceccherini I, Gattorno M, Caorsi R.
    Majeed syndrome: first description in a patient of central-European ancestry.
    Rheumatology (Oxford). 2024 Sep 10:keae480. doi: 10.1093/rheumatology/keae480. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/39255247/

  • Bulté D, Barzaghi F, Mesa-Nuñez C, Rigamonti C, Basso-Ricci L, Visconti C, et al.
    Early bone marrow alterations in patients with adenosine deaminase 2 deficiency across diseasephenotypes and severities.
    J Allergy Clin Immunol. 2024 Sep 14:S0091-6749(24)00945-X. doi: 10.1016/j.jaci.2024.09.007. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/39284370/

AGOSTO 2024

  • Dirks J, Wölfl M, Speer CP, Härtel C, Morbach H.
    Inborn Errors of Immunity in Early Childhood: Essential Insights for the Neonatologist.
    Neonatology. 2024 Aug 23:1-10. doi: 10.1159/000540436. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/39182489/

  • Chia DT, Toms A, Sanghrajka A, Ramanan A, Killeen OG, Ilea C, et al.
    Incidence of chronic recurrent multifocal osteomyelitis in children and adolescents in the UK and Republic of Ireland.
    Rheumatology (Oxford). 2024 Aug 21:keae447. doi: 10.1093/rheumatology/keae447. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/39167099/

  • Roberts E, Charras A, Hahn G, Hedrich CM.
    An improved understanding of paediatric chronic nonbacterial osteomyelitis (CNO) pathophysiology informs current and future treatment.
    J Bone Miner Res. 2024 Aug 29:zjae141. doi: 10.1093/jbmr/zjae141.
    https://pubmed.ncbi.nlm.nih.gov/39209330/

  • Aslan E, Akay N, Gul U, Konte EK, Gunalp A, Haslak F, et al.
    The Impact of Different MEFV Genotypes on Clinical Phenotype of Patients with Familial Mediterranean Fever: Special Emphasis on Joint Involvement.
    Eur J Pediatr. 2024 Aug 7. doi: 10.1007/s00431-024-05716-y.
    https://pubmed.ncbi.nlm.nih.gov/39112805/

  • La Bella S, Attanasi M, Porreca A, Di Ludovico A, Maggio MC, Gallizzi R, La Torre F, Rigante D, Soscia F, Ardenti Morini F, Insalaco A, Natale MF, Chiarelli F, Simonini G, De Benedetti F, Gattorno M, Breda L.
    Reliability of a generative artificial intelligence tool for pediatric familial Mediterranean fever: insights from a multicentre expert survey.
    Pediatr Rheumatol Online J. 2024 Aug 23;22(1):78. doi: 10.1186/s12969-024-01011-0.
    https://pubmed.ncbi.nlm.nih.gov/39180115/

  • Dingulu G, Berrebi D, Martinez-Vinson C, Dumaine C, Melki I, Viala J, et al.
    Potential association between M694V homozygous mutation in familial Mediterranean fever and eosinophilic intestinal inflammation: a pediatric case series.
    Front Pediatr. 2024 Aug 2;12:1419200. doi: 10.3389/fped.2024.1419200.
    https://pubmed.ncbi.nlm.nih.gov/39156024/

  • Coşkun Ç, Ünal Ş.
    Deficiency of Adenosine Deaminase 2.
    Turk J Haematol. 2024 Aug 28;41(3):133-140. doi: 10.4274/tjh.galenos.2024.2024.0265.
    https://pubmed.ncbi.nlm.nih.gov/39120005/

  • Al-Mayouf SM, Hadef D, Aljaberi N, Movahedi N, AlEed A, Almutairi A, et al.
    A proposed clinical tool to identify high-risk patients for monogenic lupus: a pilot study.
    Clin Exp Rheumatol. 2024 Aug 27. doi: 10.55563/clinexprheumatol/tjt58t.
    https://pubmed.ncbi.nlm.nih.gov/39212133/

  • Triaille C, Rao NM, Rice GI, Seabra L, Sutherland FJH, Bondet V, et al.
    Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System Inflammation.
    J Clin Immunol. 2024 Aug 28;44(8):185. doi: 10.1007/s10875-024-01788-5.
    https://pubmed.ncbi.nlm.nih.gov/39196411/

  • Mendonça LO, Frémond ML.
    Interferonopathies: From concept to clinical practice.
    Best Pract Res Clin Rheumatol. 2024 Aug 8:101975. doi: 10.1016/j.berh.2024.101975.
    https://pubmed.ncbi.nlm.nih.gov/39122631/

  • Idiiatullina E, Al-Azab M, Lin M, Hrovat-Schaale K, Liu Z, Li X, et al.
    Heterozygous de novo dominant negative mutation of REXO2 results in interferonopathy.
    Nat Commun. 2024 Aug 6;15(1):6685. doi: 10.1038/s41467-024-50878-w.
    https://pubmed.ncbi.nlm.nih.gov/39107301/

JULIO 2024

  • An J, Marwaha A, Laxer RM.
    Autoinflammatory Diseases: A Review.
    J Rheumatol. 2024 Jul 15:jrheum.2023-1209. doi: 10.3899/jrheum.2023-1209. Epub ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/38879186/

  • Mertz P, Hentgen V, Georgin-Lavialle S.
    Could tocilizumab be used in familial Mediterranean Fever? A systematic review.
    Rheumatology (Oxford). 2024 Jul 1:keae338. doi: 10.1093/rheumatology/keae338. Epub ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/38950176/

  • Özçelik E, Çelikel E, Tekin ZE, Güngörer V, Karagöl C, Kaplan MM, et al.
    Sacroiliitis in familial Mediterranean fever: A rare joint involvement of the disease
    J Paediatr Child Health. 2024 Jul 25. doi: 10.1111/jpc.16623. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/39051573/

 
JUNIO 2024

  • Mastrolia MV, Matucci-Cerinic C, Ozen S, Kasapcopur O, Gaggiano C, Koné-Paut I, et al; EUROFEVER REGISTRY and Pediatric Rheumatology International trial organization (PRINTO).
    Thrombotic manifestations in pediatric Behcet syndrome: A multicenter comparative study from the EUROFEVER registry.
    Semin Arthritis Rheum. 2024 Jun;66:152454. doi: 10.1016/j.semarthrit.2024.152454.
    https://pubmed.ncbi.nlm.nih.gov/38678817/

  • Mertz P, Costedoat-Chalumeau N, Ferrada MA, Moulis G, Mekinian A, Grayson PC, Arnaud L.
    Relapsing polychondritis: clinical updates and new differential diagnoses.
    Nat Rev Rheumatol. 2024 Jun;20(6):347-360. doi: 10.1038/s41584-024-01113-9.
    https://pubmed.ncbi.nlm.nih.gov/38698240/

  • He T, Wang L, Huang X, Weng R, Yang J.
    LACC1 deficiency leading to juvenile arthritis and anemia.
    Clin Immunol. 2024 Jun 27. doi: 10.1016/j.clim.2024.110290. Epub ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/38944365/

  • Miyamoto T, Izawa K, Masui S, Yamazaki A, Yamasaki Y, Matsubayashi T, et al; Japan CAPS Working Group.
    Clinical Characteristics of Cryopyrin-Associated Periodic Syndrome and Long-Term Real-World Efficacy and Tolerability of Canakinumab in Japan: Results of a Nationwide Survey.
    Arthritis Rheumatol. 2024 Jun;76(6):949-962. doi: 10.1002/art.42808.
    https://pubmed.ncbi.nlm.nih.gov/38268504/

ABRIL 2024

  • Koné-Paut I, Georgin-Lavialle S, Belot A, Jover M, Pouriel M, Lacoin L, et al.
    Canakinumab treatment real world evidence in 3 monogenic periodic fever syndromes in 2009-2022: an interim analysis using the French JIR cohort database.
    Arthritis Res Ther. 2024 Apr 8;26(1):80. doi: 10.1186/s13075-024-03316-7.
    https://pubmed.ncbi.nlm.nih.gov/38589954/

MARZO 2024

  • Yang J, Yuan C, Zhou S, Teng Z, Li M.
    Successful Treatment of Refractory Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) Syndrome with Baricitinib, a Janus Kinase Inhibitor.
    Clin Cosmet Investig Der006Datol. 2024 Mar 4;17:529-537. doi: 10.2147/CCID.S446468.
    https://pubmed.ncbi.nlm.nih.gov/38463557/

  • van der Made CI, Kersten S, Chorin O, Engelhardt KR, Ramakrishnan G, Griffin H, 
    Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.
    Am J Hum Genet. 2024 Mar 12:S0002-9297(24)00045-4. doi: 10.1016/j.ajhg.2024.02.013. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/38503300/

  • Zhong L, Wang W, Tang X, Zhang Y, Gou L, Wang L, et al.
    Phenotype of Takayasu-like vasculitis and cardiopathy in patients with Blau syndrome.
    Clin Rheumatol. 2024 Mar;43(3):1171-1181. doi: 10.1007/s10067-024-06876-w. 
    https://pubmed.ncbi.nlm.nih.gov/38253779/

  • Pernaa N, Vakkuri A, Arvonen M, Kuismin O, Santaniemi W, Glumoff V, et al
    Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis.
    J Clin Immunol. 2024 Mar 15;44(3):81. doi: 10.1007/s10875-024-01685-x.
    https://pubmed.ncbi.nlm.nih.gov/38485795/

  • Shangguan Y, Ding X, Ma L, Cai YX, Xiang S, Huang XF, Shen Y, Yu HG, Zheng W.
    Clinical and Genetic Spectrum of Nine Cases of NLRP3-Associated Autoinflammatory Disease (NLRP3-AID) and Identification of One Novel NLRP3 Mutation by Genetic Variation Analyses.
    J Immunol Res. 2024 Mar 6;2024:5722548. doi: 10.1155/2024/5722548. 
    https://pubmed.ncbi.nlm.nih.gov/38481988/

  • Saad AJ, Patil MK, Cruz N, Lam CS, O'Brien C, Nambudiri VE.
    VEXAS syndrome: A review of cutaneous findings and treatments in an emerging autoinflammatory disease.
    Exp Dermatol. 2024 Mar;33(3):e15050. doi: 10.1111/exd.15050.
    https://pubmed.ncbi.nlm.nih.gov/38469984/v

FEBRERO 2024

  • Yildirim D, Kardas RC, Gun M, Kaya B, Vasi I, Duran R, Karadeniz H, Avanoglu Guler A, Kucuk H, Erden A, Goker B, Ozturk MA, Tufan A.
    Colchicine-intolerant familial mediterranean fever patients: A comparative study between different colchicine doses and IL-1 inhibitor monotherapy.
    Int Immunopharmacol. 2024 Feb 15;128:111491. doi: 10.1016/j.intimp.2024.111491.
    https://pubmed.ncbi.nlm.nih.gov/38241844/

  • Chen KR.
    Cutaneous vasculitis in autoinflammatory diseases.
    J Dermatol. 2024 Feb;51(2):150-159. doi: 10.1111/1346-8138.17030.
    https://pubmed.ncbi.nlm.nih.gov/37955334/

  • İncesu Ç, Kayaalp GK, Demirkan FG, Köker O, Çakmak F, Akgün Ö, et al.
    The assessment of fatigue and sleep quality among children and adolescents with familial Mediterranean fever: A case-control and correlation study.
    Eur J Pediatr. 2024 Feb 23. doi: 10.1007/s00431-024-05442-5.
    https://pubmed.ncbi.nlm.nih.gov/38393372/

  • Kuemmerle-Deschner JB, Kallinich T, Henes J, Kortus-Götze B, Oommen PT, Rech J, et al.
    Long-term safety and effectiveness of canakinumab in patients with monogenic autoinflammatory diseases: results from the interim analysis of the RELIANCE registry.
    RMD Open. 2024 Feb 15;10(1):e003890. doi: 10.1136/rmdopen-2023-003890.
    https://pubmed.ncbi.nlm.nih.gov/38360038/

  • Charras A, Hofmann SR, Cox A, Schulze F, Russ S, Northey S, Liu X, Fang Y, Haldenby S, Hartmann H, Bassuk AG, Carvalho A, Sposito F, Grinstein L, Rösen-Wolff A, Meyer-Bahlburg A, Beresford MW, Lainka E, Föll D, Wittkowski H, Girschick HJ, Morbach H, Uebe S, Hüffmeier U, Ferguson PJ, Hedrich CM.
    P2RX7 gene variants associate with altered inflammasome assembly and reduced pyroptosis in chronic nonbacterial osteomyelitis (CNO).
    J Autoimmun. 2024 Feb 22;144:103183. doi: 10.1016/j.jaut.2024.103183.
    https://pubmed.ncbi.nlm.nih.gov/38401466/

  • Niedźwiedź M, Narbutt J, Siekierko A, Skibińska M, Kwiek B, Sobolewska-Sztychny D, Ciążyńska M, Poznańska-Kurowska K, Gostyński A, Lesiak A.
    Case report: Successful treatment with biologics in a pediatric patient with a severe inflammatory skin disease and novel CARD14 mutation.
    Front Med (Lausanne). 2024 Feb 5;11:1360248. doi: 10.3389/fmed.2024.1360248.
    https://pubmed.ncbi.nlm.nih.gov/38375322/

 
ENERO 2024

  • Miyamoto T, Izawa K, Masui S, Yamazaki A, Yamasaki Y, Matsubayashi T, et al; Japan CAPS working group.
    Clinical characteristics of cryopyrin-associated periodic syndrome and long-term real-world efficacy and tolerability of canakinumab in Japan: results of a nationwide survey.
    Arthritis Rheumatol. 2024 Jan 25. doi: 10.1002/art.42808. Epub ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/38268504/

  • Baysac K, Sun G, Nakano H, Schmitz EG, Cruz AC, Fisher C, Bailey AC; PLCG2-Immune Dysregulation Working Group; Mace E, Milner JD, Ombrello MJ.
    PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants.
    J Allergy Clin Immunol. 2024 Jan;153(1):230-242. doi: 10.1016/j.jaci.2023.08.036.
    https://pubmed.ncbi.nlm.nih.gov/37769878/

 
NOVIEMBRE 2023

  • Papa R, Gattorno M.
    New genes, pathways and therapeutic targets in autoinflammatory diseases.
    Nat Rev Rheumatol. 2023 Dec 14. doi: 10.1038/s41584-023-01063-8. Epub ahead of print. Erratum in: Nat Rev Rheumatol. 2024 Jan 8.
    https://pubmed.ncbi.nlm.nih.gov/38097849/

  • Tzaneti A, Athanasopoulou E, Fessatou S, Fotis L.
    Nonbacterial Osteomyelitis in Inflammatory Bowel Disease.
    Life (Basel). 2023 Dec 15;13(12):2347. doi: 10.3390/life13122347.
    https://pubmed.ncbi.nlm.nih.gov/38137947/

  • Wouters F, Bogie J, Wullaert A, van der Hilst J.
    Recent Insights in Pyrin Inflammasome Activation: Identifying Potential Novel Therapeutic Approaches in Pyrin-Associated Autoinflammatory Syndromes.
    J Clin Immunol. 2023 Dec 22;44(1):8. doi: 10.1007/s10875-023-01621-5.
    https://pubmed.ncbi.nlm.nih.gov/38129719/

  • Maronese CA, Moltrasio C, Genovese G, Marzano AV.
    Biologics for Hidradenitis suppurativa: evolution of the treatment paradigm.
    Expert Rev Clin Immunol. 2023 Dec 22:1-21. doi: 10.1080/1744666X.2023.2298356. Epub ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/38130204/

  • Hall CHT, de Zoeten EF.
    Understanding very early onset inflammatory bowel disease (VEOIBD) in relation to inborn errors of immunity.
    Immunol Rev. 2023 Dec 19. doi: 10.1111/imr.13302. Epub ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/38115672/

  • Miao J, Zhang J, Huang X, Wu N, Wu D, Shen M. 
    NLRP12-associated autoinflammatory disease in Chinese adult patients: a single-centre study.
    RMD Open. 2023 Dec 20;9(4):e003598. doi: 10.1136/rmdopen-2023-003598.
    https://pubmed.ncbi.nlm.nih.gov/38123482/

  • Kouranloo K, Dey M, Almutawa J, Myall N, Nune A.
    Clinical characteristics, disease trajectories and management of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: a systematic review.
    Rheumatol Int. 2023 Dec 21. doi: 10.1007/s00296-023-05513-0. Epub ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/38129348/

  • Ryckmans C, Donge M, Marchèse A, Mastouri M, Thomee C, Stouffs K, et al.
    TREX-1 related Aicardi-Goutières syndrome improved by Janus kinase inhibitor.
    Am J Med Genet A. 2023 Dec 22. doi: 10.1002/ajmg.a.63510. Epub ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/38135344/

 
NOVIEMBRE 2023

  • Zhong Z, Dai L, Ding J, Gao Y, Su G, Zhu Y, Deng Y, Li F, Gao Y, Yang P.
    Molecular diagnostic yield for Blau syndrome in previously diagnosed juvenile idiopathic arthritis with uveitis or cutaneous lesions.
    Rheumatology (Oxford). 2023 Nov 6:kead596. doi: 10.1093/rheumatology/kead596.
    https://pubmed.ncbi.nlm.nih.gov/37941393/

  • Ozdel S, Coşkuner T, Demirkan F, Torun R, Aydın EA, Bağlan E, Yener GO, Öztürk K, Demir F, Karadağ ŞG, Çakan M, Sönmez HE, Makay BB, Ünsal ŞE, Bülbül M, Ayaz NA, Sözeri B.
    Inflammatory comorbidities ın the largest pediatric Familial Mediterranean fever cohort: a multicenter retrospective study of Pediatric Rheumatology Academy (PeRA)-Research Group (RG).
    Clin Rheumatol. 2023 Nov 6. doi: 10.1007/s10067-023-06802-6.
    https://pubmed.ncbi.nlm.nih.gov/37926798/

  • Smajlović H, Prohić A.
    PAPA Syndrome: Challenges in Achieving Long-Term Remission.
    Acta Dermatovenerol Croat. 2023 Nov;31(2):106-109.
    https://pubmed.ncbi.nlm.nih.gov/38006373/

OCTUBRE 2023

  • Demir F, Sözeri B.
    NLRP12-associated autoinflammatory disease: much more than the FCAS phenotype.
    Clin Exp Rheumatol. 2023 Oct;41(10):2115-2121. doi: 10.55563/clinexprheumatol/kzggp3. Epub 2023 Oct 9.
    https://pubmed.ncbi.nlm.nih.gov/37877365/

  • Matucci-Cerinic C, Malattia C, Pistorio A, Rosina S, Consolaro A, Viola S, Volpi S, Caorsi R, Viglizzo G, Gattorno M.
    Skin manifestations help identifying different phenotypes of paediatric SAPHO syndrome.
    Semin Arthritis Rheum. 2023 Oct 5;63:152277. doi: 10.1016/j.semarthrit.2023.152277. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/37839270/

SEPTIEMBRE 2023

  • Fonollosa A, Pelegrín L, García-Morillo S, Buján-Rivas S, Distefano L, Robles-Maruenda A, Fernández-Martín J, González-García A, Garcia-Aparicio Á, Ortego-Centeno N, Llorenç V, Sainz de la Maza M, Pinedo C, Sopeña B, Cocho L, Carreño E, Blanco R, Antón J, Pérez-Quintana M, Marques-Soares JR, Artaraz J, Ruiz-Arruza I, Soto-Peleteiro A, Gómez-Caverzaschi V, Araújo O, Espinosa G, Adan A, Fabiani C, Cantarini L, Hernández-Rodríguez J; Spanish Society of Ocular Inflammation (SEIOC) and the AutoInflammatory Diseases Alliance (AIDA) Network.
    Ocular involvement in adult and paediatric patients with monogenic autoinflammatory diseases: a Spanish multicentre retrospective study.
    Clin Exp Rheumatol. 2023 Sep 28. doi: 10.55563/clinexprheumatol/ukegcc. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/37812477/

  • Lassoued Ferjani H, Kharrat L, Ben Nessib D, Kaffel D, Maatallah K, Hamdi W.
    Management of Blau syndrome: review and proposal of a treatment algorithm.
    Eur J Pediatr. 2023 Sep 22. doi: 10.1007/s00431-023-05204-9. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/37735224/

  • Pastore S, De Martino E, Taddio A.
    Variant STAT4 and Treatment of an Autoinflammatory Syndrome.
    N Engl J Med. 2023 Sep 21;389(12):1151. doi: 10.1056/NEJMc2308588.
    https://pubmed.ncbi.nlm.nih.gov/37733320/

  • Ben-Chetrit E.
    Old paradigms and new concepts in familial Mediterranean fever (FMF) - an update 2023.
    Rheumatology (Oxford). 2023 Sep 19:kead439. doi: 10.1093/rheumatology/kead439. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/37725337/

  • Gattorno M, Obici L, Penadés IC, Kallinich T, Benseler S, Dekker E, Lévy J, De Benedetti F, Lachmann H.
    Long-term efficacy/safety of canakinumab in patients with tumor necrosis factor receptor-associated periodic syndrome: results from a phase III trial.
    Arthritis Rheumatol. 2023 Sep 5. doi: 10.1002/art.42695. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/37668289/

  • Cooray S, Price-Kuehne F, Hong Y, Omoyinmi E, Burleigh A, Gilmour KC, Ahmad B, Choi S, Bahar MW, Torpiano P, Gagunashvili A, Jensen B, Bellos E, Sancho-Shimizu V, Herberg JA, Mankad K, Kumar A, Kaliakatsos M, Worth AJJ, Eleftheriou D, Whittaker E, Brogan PA.
    Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4.
    Front Immunol. 2023 Sep 6;14:1231749. doi: 10.3389/fimmu.2023.1231749
    https://pubmed.ncbi.nlm.nih.gov/37744344/

  • Birk-Bachar M, Cohen H, Sofrin-Drucker E, Kropach-Gilad N, Orenstein N, Lidzbarsky G, et al.
    Discovery of a novel missense variant in NLRP3 causing atypical CAPS with hearing loss as the primary presentation, responsive to anti-IL-1 therapy.
    Arthritis Rheumatol. 2023 Sep 22. doi: 10.1002/art.42721. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/37738164/

  • Okorie CL, Nayudu K, Nambudiri VE.
    Cutaneous findings and treatments in deficiency of interleukin-36 receptor antagonist (DITRA): A review of the literature.
    Exp Dermatol. 2023 Sep 19. doi: 10.1111/exd.14934. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/37726967/

  • Blank N, Kötter I, Schmalzing M, Rech J, Krause K, Köhler B, et al.
    Clinical presentation and genetic variants in patients with autoinflammatory diseases: results from the German GARROD registry.
    Rheumatol Int. 2023 Sep 25. doi: 10.1007/s00296-023-05443-x. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/37747561/

 
AGOSTO 2023

  • Zhang J, Lee PY, Aksentijevich I, Zhou Q.
    How to Build a Fire: The Genetics of Autoinflammatory Diseases.
    Annu Rev Genet. 2023 Aug 10. doi: 10.1146/annurev-genet-030123-084224. Epub ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/37562411/

  • Wei Q, Sun L.
    Monogenic autoinflammatory disease-associated cardiac damage.
    Inflamm Res. 2023 Aug;72(8):1689-1693. doi: 10.1007/s00011-023-01771-7. Epub 2023 Aug 10.
    https://pubmed.ncbi.nlm.nih.gov/37563333/

  • Dzhus M, Ehlers L, Wouters M, Jansen K, Schrijvers R, De Somer L, Vanderschueren S, Baggio M, Moens L, Verhaaren B, Lories R, Bucciol G, Meyts I.
  • A Narrative Review of the Neurological Manifestations of Human Adenosine Deaminase 2 Deficiency.
  • J Clin Immunol. 2023 Aug 7. doi: 10.1007/s10875-023-01555-y. Epub ahead of print.
  • https://pubmed.ncbi.nlm.nih.gov/37548813/
  • Priyanka P, Patra PK, Banday AZ, Reddy P, Sharma N, Jannarthanan J, Bhattarai D.
  • Recurrent flare-associated urticaria in adenosine deaminase type 2 deficiency.
  • Rheumatology (Oxford). 2023 Aug 25:kead443. doi: 10.1093/rheumatology/kead443. Epub ahead of print.
  • https://pubmed.ncbi.nlm.nih.gov/37624921/

  • Gullu UU, Balaban İ, Kara SS, Yaralı O, Türkyılmaz A, İpek S, Güllü ŞD, Çalışkan OF.
    Frequency of Familial Mediterranean Fever Gene Mutation in Patients Presenting With Joint Pain and Diagnosed With Acute Rheumatic Fever.
    Cureus. 2023 Aug 5;15(8):e43001. doi: 10.7759/cureus.43001.
    https://pubmed.ncbi.nlm.nih.gov/37671203/

  • Mejbri M, Renella R, Candotti F, Jaques C, Holzinger D, Hofer M, Theodoropoulou K.
    PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI) Syndrome: A Systematic Review.
    Genes (Basel). 2023 Aug 19;14(8):1655. doi: 10.3390/genes14081655.
    https://pubmed.ncbi.nlm.nih.gov/37628706/

  • Gagne S, Sivaraman V, Akoghlanian S.
    Interferonopathies masquerading as non-Mendelian autoimmune diseases: pattern recognition for early diagnosis.
    Front Pediatr. 2023 Aug 9;11:1169638. doi: 10.3389/fped.2023.1169638.
    https://pubmed.ncbi.nlm.nih.gov/37622085/

  • Papendorf JJ, Ebstein F, Alehashemi S, Piotto DGP, Kozlova A, Terreri MT, Shcherbina A, Rastegar A, Rodrigues M, Pereira R, Park S, Lin B, Uss K, Möller S, da Silva Pina AF, Sztajnbok F, Torreggiani S, Niemela J, Stoddard J,
    Rosenzweig SD, Oler AJ, McNinch C, de Guzman MM, Fonseca A, Micheloni N, Fraga MM, Perazzio SF, Goldbach-Mansky R, de Jesus AA, Krüger E.
    Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).
    Front Immunol. 2023 Aug 4;14:1190104. doi: 10.3389/fimmu.2023.1190104.
    https://pubmed.ncbi.nlm.nih.gov/37600812/

  • Ambrus-Aikelin G, Takeda K, Joetham A, Lazic M, Povero D, Santini AM, Pranadinata R, Johnson CD, McGeough MD, Beasley FC, Stansfield R, McBride C, Trzoss L, Hoffman HM, Feldstein AE, Stafford JA, Veal JM, Bain G, Gelfand EW.
    JT002, a small molecule inhibitor of the NLRP3 inflammasome for the treatment of autoinflammatory disorders.
    Sci Rep. 2023 Aug 19;13(1):13524. doi: 10.1038/s41598-023-39805-z.
    https://pubmed.ncbi.nlm.nih.gov/37598239/

  • Ruffer N, Krusche M.
    VEXAS syndrome: a diagnostic puzzle.
    RMD Open. 2023 Aug;9(3):e003332. doi: 10.1136/rmdopen-2023-003332.
    https://pubmed.ncbi.nlm.nih.gov/37532466/

  • Heiblig M, Patel B, Jamilloux Y.
    VEXAS syndrome, a new kid on the block of auto-inflammatory diseases: A hematologist's point of view.
    Best Pract Res Clin Rheumatol. 2023 Aug 29:101861. doi: 10.1016/j.berh.2023.101861. Epub ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/37652853/

JULIO 2023

  • Öner N, Çelikel E, Güngörer V, Ekici Tekin Z, Coşkun S, Karagöl C et al.
    The Effect of Clinical and Genetic Variables of Familial Mediterranean Fever Patients on Real-Life Data.
    J Clin Rheumatol. 2023 Jul 27. doi: 10.1097/RHU.0000000000002002. Epub ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/37496121/

  • Mosad Mosa D, Shokry D, Ahmed DB, Sobh A.
    Early predictors of colchicine resistance in familial Mediterranean fever.
    Mod Rheumatol. 2023 Jul 4;33(4):830-835. doi: 10.1093/mr/roac068.
    https://pubmed.ncbi.nlm.nih.gov/35789271/
  • Hidradenitis suppurativa and psoriasis: the odd couple.
    Front Med (Lausanne). 2023 Jul 7;10:1208817. doi: 10.3389/fmed.2023.1208817.
    https://pubmed.ncbi.nlm.nih.gov/37484864/

  • La Bella S, Di Ludovico A, Di Donato G, Scorrano G, Chiarelli F, Vivarelli M, Breda L.
    Renal involvement in monogenic autoinflammatory diseases: A narrative review.
    Nephrology (Carlton). 2023 Jul;28(7):363-371. doi: 10.1111/nep.14166.
    https://pubmed.ncbi.nlm.nih.gov/37142240/

  • Bulté D, Rigamonti C, Romano A, Mortellaro A.
    Inflammasomes: Mechanisms of Action and Involvement in Human Diseases.
    Cells. 2023 Jul 3;12(13):1766. doi: 10.3390/cells12131766.
    https://pubmed.ncbi.nlm.nih.gov/37443800/

  • Borges T, Silva S.
    RS3PE syndrome: Autoinflammatory features of a rare disorder.
    Mod Rheumatol. 2023 Jul 4;33(4):640-646. doi: 10.1093/mr/roac071.
    https://pubmed.ncbi.nlm.nih.gov/35904275/

  • Wei Z, Yang Z, Li D, Zhang X, Li B, Zhao X, Yan W, Wu B, Wu N, Wang X, Yu W, Shen M.
    New retinal findings in NLRP3-associated autoinflammatory disease.
    Orphanet J Rare Dis. 2023 Jul 21;18(1):202. doi: 10.1186/s13023-023-02815-1.
    https://pubmed.ncbi.nlm.nih.gov/37480029/

  • Macca L, Li Pomi F, Ingrasciotta Y, Morrone P, Trifirò G, Guarneri C. Reygaerts T, Laohamonthonkul P, Hrovat-Schaale K, Moghaddas F, Baker PJ, Gray PE, Masters SL.
    Pyrin variant E148Q potentiates inflammasome activation and the effect of pathogenic mutations in cis.
    Rheumatology (Oxford). 2023 Jul 22:kead376. doi: 10.1093/rheumatology/kead376. Epub ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/37481715/

 
MAYO 2023

  • Singhal S, Landes C, Shukla R, McCann LJ, Hedrich CM.
    Classification and management strategies for paediatric chronic nonbacterial osteomyelitis and chronic recurrent multifocal osteomyelitis.
    Expert Rev Clin Immunol. 2023 May 24. doi: 10.1080/1744666X.2023.2218088. Epub ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/37224535/

  • Melo A, de Carvalho LM, Ferriani VPL, Cavalcanti A, Appenzeller S, Oliveira VR, et al.
    A brazilian nationwide multicenter study on deficiency of deaminase-2 (DADA2).
    Adv Rheumatol. 2023 May 22;63(1):23. doi: 10.1186/s42358-023-00303-5.
    https://pubmed.ncbi.nlm.nih.gov/37217999/

  • Batu ED, Şener S, Arslanoglu Aydin E, Aliyev E, Bagrul İ, Türkmen Ş, et al.
    A score for predicting colchicine resistance at the time of diagnosis in familial Mediterranean fever: data from the TURPAID registry.
    Rheumatology (Oxford). 2023 May 25:kead242. doi: 10.1093/rheumatology/kead242. Epub ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/37228026/

  • Levinsky Y, Azani L, Shkalim Zemer V, Chodick G, Tal R, Harel L, Amarilyo G.
    Adherence to colchicine prophylaxis among patients with familial Mediterranean fever treated with interleukin-1 inhibitors.
    Semin Arthritis Rheum. 2023 May 4;61:152211. doi: 10.1016/j.semarthrit.2023.152211. Epub ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/37201215/

  • Haşlak F, Kılıç Könte E, Aslan E, Şahin S, Kasapçopur Ö.
    Type I Interferonopathies in Childhood.
    Balkan Med J. 2023 May 8;40(3):165-174. doi: 10.4274/balkanmedj.galenos.2023.2023-4-78.
    https://pubmed.ncbi.nlm.nih.gov/37161741/

  • Chen L, Mamutova A, Kozlova A, Latysheva E, Evgeny F, Latysheva T, et al.
    Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2.
    J Allergy Clin Immunol. 2023 May 5:S0091-6749(23)00564-X. doi: 10.1016/j.jaci.2023.04.014. Epub ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/37150360/

ABRIL 2023

  • Pisacreta AM, Mascolo R, Nivuori M, Dominioni CC, Gabiati C, Trotta L, Pancrazi M, Marco GD, Carollo C, Pedroli A, Casarin F, Tombetti E, Bizzi E, Imazio M, Brucato A.
    Acute pericarditis with pleuropulmonary involvement, fever and elevated C-reactive protein: A systemic autoinflammatory disease? A cohort study.
    Eur J Intern Med. 2023 Apr 15:S0953-6205(23)00112-7. doi: 10.1016/j.ejim.2023.03.034. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/37069014/ 

MARZO 2023

  • Rodríguez-Carrio J, Burska A, Conaghan PG, Dik WA, Biesen R, Eloranta MLet al.
    2022 EULAR points to consider for the measurement, reporting and application of IFN-I pathway activation assays in clinical research and practice.
    Ann Rheum Dis. 2023 Mar 1:ard-2022-223628. doi: 10.1136/ard-2022-223628. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/36858821/

  • Hegazy MT, Fayed A, Nuzzolese R, Sota J, Ragab G.
    Autoinflammatory diseases and the kidney.
    Immunol Res. 2023 Mar 29. doi: 10.1007/s12026-023-09375-3. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/36991303/

  • Caldirola MS, Seminario AG, Luna PC, Curciarello R, Docena GH, Fernandez Escobar N, Drelichman G, Gattorno M, de Jesus AA, Goldbach-Mansky R, Gaillard MI, Bezrodnik L.
    Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation.
    Front Pediatr. 2023 Mar 10;11:1108207. doi: 10.3389/fped.2023.1108207.
    https://pubmed.ncbi.nlm.nih.gov/36969289/

  • Costi S, Germinario S, Pandolfi M, Pellico MR, Amati A, Gattinara M, Chighizola CB, Caporali R, Marino A.
    Chronic Nonbacterial Osteomyelitis and Inflammatory Bowel Disease: A Literature Review-Based Cohort.
    Children (Basel). 2023 Mar 3;10(3):502. doi: 10.3390/children10030502.
    https://pubmed.ncbi.nlm.nih.gov/36980060/

  • Matsumoto Y, Rottapel R.
    PARsylation-mediated ubiquitylation: lessons from rare hereditary disease Cherubism.
    Trends Mol Med. 2023 Mar 20:S1471-4914(23)00032-1. doi: 10.1016/j.molmed.2023.02.001. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/36948987/

  • Bruno A, Gurnari C, Alexander T, Snowden JA, Greco R; Autoimmune Diseases Working Party of the European Society for Blood and Marrow Transplantation.
    Autoimmune manifestations in VEXAS: Opportunities for integration and pitfalls to interpretation.
    J Allergy Clin Immunol. 2023 Mar 20:S0091-6749(23)00231-2. doi: 10.1016/j.jaci.2023.02.017. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/36948992/

  • Hines AS, Mohandesi NA, Lehman JS, Koster MJ, Cantwell HM, Alavi A, et al.
    Cutaneous involvement in VEXAS syndrome: clinical and histopathologic findings
    Int J Dermatol. 2023 Mar 8. doi: 10.1111/ijd.16635. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/36890121/

 
FEBRERO 2023

  • Gil-Lianes J, Gariup G, Iranzo-Fernández P, Mensa-Vilaró A, Peñín-Franch A, Hurtado-Navarro L, Pelegrin P, Aróstegui JI.
    Early-onset recurrent panniculitis as a phenotype of NLRC4-associated autoinflammatory syndrome: Characterization of pathogenicity of the p.Ser445Pro NLRC4 variant.
    Australas J Dermatol. 2023 Feb 16. doi: 10.1111/ajd.14005. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/36797819/

  • Gallego E, Arias-Merino G, Sánchez-Díaz G, Villaverde-Hueso A, Posada de la Paz M, Alonso-Ferreira V.
    Familial Mediterranean Fever in Spain: Time Trend and Spatial Distribution of the Hospitalizations.
    Int J Environ Res Public Health. 2023 Feb 28;20(5):4374. doi: 10.3390/ijerph20054374.
    https://pubmed.ncbi.nlm.nih.gov/36901385/

  • Çağlayan Ş, Mardinoğlu G, Yarar MH, Ulu K, Coşkuner T, Yiğit RE, Baykal GÖ, Türkmen Ş, Çakan M, Demir F, Sözeri B.
    The assessment of autoinflammatory disease classification criteria (Eurofever/PRINTO) in a real-life cohort
    Clin Rheumatol. 2023 Feb 24. doi: 10.1007/s10067-023-06557-0. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/36826737/

  • La Torre F, Sota J, Insalaco A, Conti G, Del Giudice E, Lubrano R, et al.
    Preliminary data revealing efficacy of Streptococcus salivarius K12 (SSK12) in Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Adenitis (PFAPA) syndrome: A multicenter study from the AIDA Network PFAPA syndrome registry.
    Front Med (Lausanne). 2023 Feb 16;10:1105605. doi: 10.3389/fmed.2023.1105605.
    https://pubmed.ncbi.nlm.nih.gov/36873863/

  • Ru C, Qian T, Liu X, Wang C, Li W, Hou X, Li C.
    SAPHO syndrome with Takayasu arteritis successfully treated with tofacitinib
    Int J Rheum Dis. 2023 Feb 22. doi: 10.1111/1756-185X.14628. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/36814398/

  • Li GM, Han X, Wu Y, Wang W, Tang HX, Lu MP, et al.
    A Cohort Study on Deficiency of ADA2 from China
    J Clin Immunol. 2023 Feb 18. doi: 10.1007/s10875-023-01432-8. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/36807221/

  • Sacco KA, Gazzin A, Notarangelo LD, Delmonte OM.
    Granulomatous inflammation in inborn errors of immunity
    Front Pediatr. 2023 Feb 20;11:1110115. doi: 10.3389/fped.2023.1110115.
    https://pubmed.ncbi.nlm.nih.gov/36891233/

  • An JW, Pimpale-Chavan P, Stone DL, Bandeira M, Dedeoglu F, Lo J, Bohnsack J, Rosenzweig S, Schnappauf O, Dissanayake D, Hiraki LT, Kastner DL, Pelajo C, Laxer RM, Aksentijevich I.
    Case report: Novel variants in RELA associated with familial Behcet's-like disease
    Front Immunol. 2023 Feb 28;14:1127085. doi: 10.3389/fimmu.2023.1127085.
    https://pubmed.ncbi.nlm.nih.gov/36926348/

  • Hua Y, Wu N, Miao J, Shen M.
    Single-cell transcriptomic analysis in two patients with rare systemic autoinflammatory diseases treated with anti-TNF therapy.
    Front Immunol. 2023 Feb 24;14:1091336. doi: 10.3389/fimmu.2023.1091336.
    https://pubmed.ncbi.nlm.nih.gov/36911721/

  • Aiello A, Mariano EE, Prada M, Cioni L, Teruzzi C, Manna R.
    Budget impact analysis of anakinra in the treatment of familial Mediterranean fever in Italy.
    J Mark Access Health Policy. 2023 Feb 9;11(1):2176091. doi: 10.1080/20016689.2023.2176091.
    https://pubmed.ncbi.nlm.nih.gov/36819891/

  • Manole S, Rancea R, Vulturar R, Simon SP, Molnar A, Damian L.
    Frail Silk: Is the Hughes-Stovin Syndrome a Behçet Syndrome Subtype with Aneurysm-Involved Gene Variants?
    Int J Mol Sci. 2023 Feb 5;24(4):3160. doi: 10.3390/ijms24043160.
    https://pubmed.ncbi.nlm.nih.gov/36834577/

  • Jorch SK, McNally A, Berger P, Wolf J, Kaiser K, Chetrusca Covash A, et al.
    Complex regulation of alarmins S100A8/A9 and secretion via gasdermin D pores exacerbates autoinflammation in familial Mediterranean fever.
    Allergy Clin Immunol. 2023 Feb 22:S0091-6749(23)00225-7. doi: 10.1016/j.jaci.2023.01.037. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/36822481/

 
ENERO 2023

  • Cohen K, Spielman S, Semo-Oz R, Bitansky G, Gerstein M, Yacobi Y, Vivante A, Tirosh I.
    Colchicine treatment can be discontinued in a selected group of pediatric FMF patients.
    Pediatr Rheumatol Online J. 2023 Jan 4;21(1):2. doi: 10.1186/s12969-022-00780-w.
    https://pubmed.ncbi.nlm.nih.gov/36600239/

  • Du Y, Liu M, Nigrovic PA, Dedeoglu F, Lee PY.
    Biologics and JAK inhibitors for the treatment of monogenic systemic autoinflammatory diseases in children.
    J Allergy Clin Immunol. 2023 Jan 25:S0091-6749(22)02589-1. doi: 10.1016/j.jaci.2022.12.816. Epub ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/36707349/

  • Poker Y, von Hardenberg S, Hofmann W, Tang M, Baumann U, Schwerk N, Wetzke M, Lindenthal V, Auber B, Schlegelberger B, Ott H, von Bismarck P, Viemann D, Dressler F, Klemann C, Bergmann AK.
    Systematic genetic analysis of pediatric patients with autoinflammatory diseases.
    Front Genet. 2023 Jan 27;14:1065907. doi: 10.3389/fgene.2023.1065907.
    https://pubmed.ncbi.nlm.nih.gov/36777733/

  • Pinchevski-Kadir S, Gerstein M, Pleniceanu O, Yacobi Y, Vivante A, Granat OE, Spielman S, Oz RS, Tirosh I.
    Effect of interleukin-1 antagonist on growth of children with colchicine resistant or intolerant FMF.
    Pediatr Rheumatol Online J. 2023 Jan 9;21(1):4. doi: 10.1186/s12969-022-00784-6.
    https://pubmed.ncbi.nlm.nih.gov/36624531/

  • Özkılınç Önen M, Onat UI, Uğurlu S, Timuçin AC, Öz Arslan D, Everest E, Özdoğan H, Tahir Turanlı E.
    Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype.
    Rheumatology (Oxford). 2023 Jan 24:kead044. doi: 10.1093/rheumatology/kead044. Epub ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/36692132/

 
DICIEMBRE 2022

  • Sarika GM, Shreberk-Hassidim R, Maly A, Molho-Pessach V.
    Acrofacial necrotic ulcers in an infant: An undiagnosed presentation
    Front Pediatr. 2022 Dec 22;10:1069242. doi: 10.3389/fped.2022.1069242. eCollection 2022.
    https://pubmed.ncbi.nlm.nih.gov/36619501/

  • Caldiran FY, Deveci K, Cacan E.
    NLRP13 inflammasome complex is hypermethylated in familial Mediterranean fever and global methylation correlates with the disease severity
    Ann Hum Genet. 2022 Dec 30. doi: 10.1111/ahg.12493. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/36583259/

  • Caorsi R, Insalaco A, Bovis F, Martini G, Cattalini M, Chinali M, Rimini A, Longo C, Federici S, Celani C, Filocamo G, Consolini R, Maggio MC, Fadanelli G, Licciardi F, Romano M, Teruzzi BL, Taddio A, Miniaci A, La Torre F, De Fanti A,
    Cavalli G, Bigucci B, Gallizzi R, Chinello M, Imazio M, Brucato A, Cimaz R, De Benedetti F, Gattorno M.
    Paediatric recurrent pericarditis: Appropriateness of the standard of care and response to IL1-blockade
    J Pediatr. 2022 Dec 2:S0022-3476(22)01095-2. doi: 10.1016/j.jpeds.2022.11.034. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/36470465/

  • Cebecauerová D, Malcová H, Koukolská V, Kvíčalová Z, Souček O, Wagenknecht L, Bronský J, Šumník Z, Kynčl M, Cebecauer M, Horváth R.
    Two phenotypes of chronic recurrent multifocal osteomyelitis with different patterns of bone involvement
    Pediatr Rheumatol Online J. 2022 Dec 1;20(1):108. doi: 10.1186/s12969-022-00772-w.
    https://pubmed.ncbi.nlm.nih.gov/36456962/

 
NOVIEMBRE 2022

  • Legger GE, Dermer CWE, Brunger AF, van Daele PLA, Nienhuis HLA.
    The relation between C-reactive protein and serum amyloid A in patients with autoinflammatory diseases.
    Pediatr Rheumatol Online J. 2022 Nov 24;20(1):106. doi: 10.1186/s12969-022-00757-9.
    https://pubmed.ncbi.nlm.nih.gov/36434581/

  • Saulescu I, Ionescu R, Opris-Belinski D.
    Interferon in systemic lupus erythematosus-A halfway between monogenic autoinflammatory and autoimmune disease.
    Heliyon. 2022 Nov 24;8(11):e11741. doi: 10.1016/j.heliyon.2022.e11741.
    https://pubmed.ncbi.nlm.nih.gov/36468094/

  • Raftopoulou S, Rapti A, Karathanasis D, Evangelopoulos ME, Mavragani CP.
    The role of type I IFN in autoimmune and autoinflammatory diseases with CNS involvement.
    Front Neurol. 2022 Nov 10;13:1026449. doi: 10.3389/fneur.2022.1026449. 
    https://pubmed.ncbi.nlm.nih.gov/36438941/

  • Zanatta L, Biscaro F, Bresolin S, Marzaro M, Sarcognato S, Cataldo I, Marzollo A, Martelossi S.Front Pediatr. 2022 Nov 18;10:1044007. doi: 10.3389/fped.2022.1044007.
    Case Report: An early-onset inflammatory colitis due to a variant in TNFAIP3 causing A20 haploinsufficiency.
    Front Pediatr. 2022 Nov 18;10:1044007. doi: 10.3389/fped.2022.1044007.
    https://pubmed.ncbi.nlm.nih.gov/36467491/

  • Yıldız Ç, Gezgin Yıldırım D, Inci A, Tümer L, Cengiz Ergin FB, et al.
    A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation.
    Joint Bone Spine. 2022 Nov 18;90(1):105490. doi: 10.1016/j.jbspin.2022.105490. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/36410683/

 
OCTUBRE 2022

  • Guilpain P.
    JAK inhibitors in autoinflammatory syndromes? The long road from drug development to daily clinical use.
    Rheumatology (Oxford). 2022 Oct 11:keac592. doi: 10.1093/rheumatology/keac592. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/36218416/

  • Wan R, Fänder J, Zakaraia I, Lee-Kirsch MA, Wolf C, Lucas N, et al.
    Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases.
    Front Immunol. 2022 Oct 6;13:1029423. doi: 10.3389/fimmu.2022.1029423. eCollection 2022.
    https://pubmed.ncbi.nlm.nih.gov/36275728/

  • Li Y, Yu M, Lu M.
    Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review.
    Pediatr Rheumatol Online J. 2022 Oct 17;20(1):90. doi: 10.1186/s12969-022-00728-0.
    https://pubmed.ncbi.nlm.nih.gov/36253853/

  • Andreasen CM, Klicman RF, Herlin T, Hauge EM, Jurik AG.
    Standardized reporting and quantification of whole-body MRI findings in children with chronic non-bacterial osteomyelitis treated with pamidronate.
    Pediatr Rheumatol Online J. 2022 Oct 1;20(1):85. doi: 10.1186/s12969-022-00746-y.
    https://pubmed.ncbi.nlm.nih.gov/36183086/

  • Nayır Buyuksahin H, Basaran O, Balık Z, Bilginer Y, Ozen S, Dogru D.
    Interstitial lung disease in autoinflammatory disease in childhood: a systematic review of the literature.
    Pediatr Pulmonol. 2022 Oct 31. doi: 10.1002/ppul.26220. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/36314652/

  • Betrains A, Wright WF, Moreel L, Staels F, Blockmans D, Vanderschueren S
    Etiological spectrum and outcome of fever and inflammation of unknown origin. Does symptom duration matter?
    Eur J Intern Med. 2022 Oct 16:S0953-6205(22)00354-5. doi: 10.1016/j.ejim.2022.10.002. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/36261311/

 
AGOSTO 2022

  • Lazea C, Damian L, Vulturar R, Lazar C.
    PFAPA Syndrome: Clinical, Laboratory and Therapeutic Features in a Single-Centre Cohort
    Int J Gen Med. 2022 Aug 29;15:6871-6880. doi: 10.2147/IJGM.S373942.
    https://pubmed.ncbi.nlm.nih.gov/36061962/

  • Lanis A, Van Den Bogaerde S, Zhao Y.
    Chronic recurrent multifocal osteomyelitis and tofacitinib: a case series
    Rheumatology (Oxford). 2022 Aug 17:keac461. doi: 10.1093/rheumatology/keac461. 
    https://pubmed.ncbi.nlm.nih.gov/35976104/

  • Monfort JB, Deshayes S, Dusser P, Bourguiba R, Savey L, Vinit C, Koné-Paut I, Amaryan G, Theodoropoulou K, Guedri R, Pachlopnik J, Belot A, Melki I, Maldar NP; JIR cohort investigators, Hentgen V, Georgin-Lavialle S.
    Cutaneous manifestations of monogenic auto-inflammatory diseases: an international cohort study from the JIR cohort.
    J Am Acad Dermatol. 2022 Aug 12:S0190-9622(22)02527-0. doi: 10.1016/j.jaad.2022.08.015.
    https://pubmed.ncbi.nlm.nih.gov/35970384/

  • Welzel T, Oefelein L, Twilt M, Pfister M, Kuemmerle-Deschner JB, Benseler SM.
    Tapering of biological treatment in autoinflammatory diseases: a scoping review.
    Pediatr Rheumatol Online J. 2022 Aug 13;20(1):67. doi: 10.1186/s12969-022-00725-3.
    https://pubmed.ncbi.nlm.nih.gov/35964053/

  • Renson T, Hamiwka L, Benseler S.
    Central nervous system manifestations of monogenic autoinflammatory disorders and the neurotropic features of SARS-CoV-2: Drawing the parallels
    Front Pediatr. 2022 Aug 10;10:931179. doi: 10.3389/fped.2022.931179.
    https://pubmed.ncbi.nlm.nih.gov/36034552/

  • Jafarpour S, Banerjee A, Boyd NK, Vogel BN, Paulsen KC, Ahsan N, Mitchell WG, Jeste SS, Santoro JD.
    Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.
    J Neurol. 2022 Aug 12:1-18. doi: 10.1007/s00415-022-11325-2.
    https://pubmed.ncbi.nlm.nih.gov/35960392/

  • Koné-Paut I, Piram M, Benseler S, Kuemmerle-Deschner JB, Jansson A, Rosner I, Tommasini A, Murias S, Karadag O, Levy J, McCreddin S, Migliaccio M, De Benedetti F.
    Use of the Auto-inflammatory Disease Activity Index to monitor disease activity in patients with colchicine-resistant Familial Mediterranean Fever, Mevalonate Kinase Deficiency, and TRAPS treated with
    anakinumab.
    Joint Bone Spine. 2022 Aug 6;89(6):105448. doi: 10.1016/j.jbspin.2022.105448.
    https://pubmed.ncbi.nlm.nih.gov/35944600/

 
JULIO 2022

  • Romano M, Arici ZS, Piskin D, Alehashemi S, Aletaha D, Barron K, et al.
    The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist.
    Arthritis Rheumatol. 2022 Jul;74(7):1102-1121. doi: 10.1002/art.42139.
    https://pubmed.ncbi.nlm.nih.gov/35621220/

  • Levinsky Y, Butbul Aviel Y, Ahmad SA, Broide M, Gendler Y, Dagan N, Gafner M, Gavra H, Kagan S, Kedar K, Natour HM, Tal R, Veres T, Amarilyo G, Harel L.
    PFAPA flares observed during COVID outbreak: can emotional stress trigger PFAPA attacks? A multicenter cohort study.
    Pediatr Rheumatol Online J. 2022 Jul 8;20(1):46. doi: 10.1186/s12969-022-00705-7.
    https://pubmed.ncbi.nlm.nih.gov/35804374/

  • Jeyaratnam J, Faraci M, Gennery AR, Drabko K, Algeri M, Morimoto A, Sirait T, Lankester AC, Albert M, Neven B, Frenkel J; EBMT Inborn Errors Working Party.
    The efficacy and safety of allogeneic stem cell transplantation in Mevalonate Kinase Deficiency.
    Pediatr Rheumatol Online J. 2022 Jul 29;20(1):56. doi: 10.1186/s12969-022-00716-4.
    https://pubmed.ncbi.nlm.nih.gov/35906690/

  • Miyazawa H, Wada T.
    Immune-mediated inflammatory diseases with chronic excess of serum interleukin-18.
    Front Immunol. 2022 Jul 25;13:930141. doi: 10.3389/fimmu.2022.930141. PMID: 35958573.
    https://pubmed.ncbi.nlm.nih.gov/35958573/

  • Batu ED, Kaya Akca U, Basaran O, Bilginer Y, Özen S.
    Probiotic use in the prophylaxis of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome: a retrospective cohort study.
    Rheumatol Int. 2022 Jul;42(7):1207-1211. doi: 10.1007/s00296-021-05084-y.
    https://pubmed.ncbi.nlm.nih.gov/34994815/

 
JUNIO 2022

  • Broderick L, Hoffman HM.
    IL-1 and autoinflammatory disease: biology, pathogenesis and therapeutic targeting.
    Nat Rev Rheumatol. 2022 Jun 21;1-16. doi: 10.1038/s41584-022-00797-1. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/35729334/

  • Boyadzhieva Z, Ruffer N, Burmester G, Pankow A, Krusche M.
    Effectiveness and Safety of JAK Inhibitors in Autoinflammatory Diseases: A Systematic Review
    Front Med (Lausanne). 2022 Jun 27;9:930071. doi: 10.3389/fmed.2022.930071.

  • Penco F, Petretto A, Lavarello C, Papa R, Bertoni A, Omenetti A, Gueli I, Finetti M, Caorsi R, Volpi S, Gattorno M.
    Proteomic Signatures of Monocytes in Hereditary Recurrent Fevers.
    Front Immunol. 2022 Jun 23;13:921253. doi: 10.3389/fimmu.2022.921253.
    https://pubmed.ncbi.nlm.nih.gov/35812440/

  • Papakonstantinou O, Prountzos S, Karavasilis E, Atsali E, Bizimi V, Alexopoulou E, Fotis L.
    Whole-body magnetic resonance imaging findings and patterns of chronic nonbacterial osteomyelitis in a series of Greek pediatric patients.
    Acta Radiol Open. 2022 Jun 22;11(6):20584601221106701. doi: 10.1177/20584601221106701. eCollection 2022 Jun.
    https://pubmed.ncbi.nlm.nih.gov/35757189/

  • Karamanakos A, Tektonidou M, Vougiouka O, Gerodimos C, Katsiari C et al.
    Autoinflammatory syndromes with coexisting variants in Mediterranean FeVer and other genes: Utility of multiple gene screening and the possible impact of gene dosaje.
    Semin Arthritis Rheum. 2022 Jun 23;56:152055. doi: 10.1016/j.semarthrit.2022.152055. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/35780723/

  • Tapiz I Reula AJ, Cochino AV, Martins AL, Angosto-Bazarra D, Ortiz de Landazuri I, Mensa-Vilaró A et al.
    Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome.
    J Clin Immunol. 2022 Jun 18. doi: 10.1007/s10875-022-01298-2. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/35716229/

  • Gezgin Y, Kırnaz B, Berdeli A.
    Screening of OTULIN gene mutation with targeted next generation sequencing in Turkish populations and in silico analysis of these mutations.
    Mol Biol Rep. 2022 Jun;49(6):4643-4652. doi: 10.1007/s11033-022-07312-5. Epub 2022 Mar 16.
    https://pubmed.ncbi.nlm.nih.gov/35294702/

  • Romano M, Garcia-Bournissen F, Piskin D, Rodoplu U, Piskin L, Elzagallaai AA et al.
    Anti-Inflammatory, Antioxidant, and Anti-Atherosclerotic Effects of Natural Supplements on Patients with FMF-Related AA Amyloidosis: A Non-Randomized 24-Week Open-Label Interventional Study.
    Life (Basel). 2022 Jun 15;12(6):896. doi: 10.3390/life12060896.
    https://pubmed.ncbi.nlm.nih.gov/35743929/

 
MAYO 2022

  • Jeyaratnam J, Simon A, Calvo I, Constantin T, Shcherbina A, Hofer M, Gattorno M, et al.
    The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS.
    Arthritis Rheumatol. 2022 May;74(5):735-751. doi: 10.1002/art.42087. Epub 2022 Mar 21. PMID: 35315249.
    https://pubmed.ncbi.nlm.nih.gov/35315249/

  • Al-Mayouf SM, Akbar L, Abdwani R, Ginesi G, Volpi S, Gattorno M, et al.
    Performance of the EULAR/ACR 2019 classification criteria for systemic lupus erythematous in monogenic lupus.
    Clin Rheumatol. 2022 May 19. doi: 10.1007/s10067-022-06209-9. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/35590114/

  • Bourguiba R, Kyheng M, Koné-Paut I, Rouzaud D, Avouac J, Devaux M, et al; FAI2R/SFR/SNFMI/SOFREMIP/CRI/IMIDIATE consortium and contributors.
    COVID-19 infection among patients with autoinflammatory diseases: a study on 117 French patients compared with 1545 from the French RMD COVID-19 cohort: COVIMAI-the French cohort study of SARS-CoV-2 infection in patient with systemic autoinflammatory diseases.
    RMD Open. 2022 May;8(1):e002063. doi: 10.1136/rmdopen-2021-002063.
    https://pubmed.ncbi.nlm.nih.gov/35537796/

  • Schnabel A, Nashawi M, Anderson C, Felsenstein S, Lamoudi M, Poole-Cowley J, et al.
    TNF-inhibitors or bisphosphonates in chronic nonbacterial osteomyelitis? - Results of an international retrospective multicenter study.
    Clin Immunol. 2022 May;238:109018. doi: 10.1016/j.clim.2022.109018.
    https://pubmed.ncbi.nlm.nih.gov/35460903/

    Martini A, Bader-Meunier B, Vastert B, Levy J, Dekker E, de Benedetti F, Frenkel J.
    Long-term efficacy and safety of canakinumab in patients with mevalonate kinase deficiency: results from the randomised Phase 3 CLUSTER trial.
    Rheumatology (Oxford). 2022 May 5;61(5):2088-2094. doi: 10.1093/rheumatology/keab696. PMID: 34554243.

  • Aktaş B, Gümüş D, Tunalı A, Kunter Z, Adrovic A.
    Mevalonate kinase deficiency/Hyperimmunoglobulin D syndrome (MVK/HIDS) in a Differential Diagnosis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Familial Mediterranean Fever (FMF): A Case Report.
    Turk Arch Pediatr. 2022 May;57(3):365-367. doi: 10.5152/TurkArchPediatr.2022.21321. PMID: 35781244; PMCID: PMC9131824.
    https://pubmed.ncbi.nlm.nih.gov/35781244/

  • Assrawi E, Louvrier C, El-Khouri E, Delaleu J, Copin B, Dastot-Le Moal F,
    Mosaic variants in TNFRSF1A: An emerging cause of tumor necrosis factor receptor-associated periodic syndrome.
    Rheumatology (Oxford). 2022 May 28:keac274. doi: 10.1093/rheumatology/keac274. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/35640127/

  • Alamlih L, Al-Karaja L, Alayaseh M, Abunejma F, Al-Zeer Z, Sultan B.
    Familial Mediterranean Fever with Pseudo-Septic Arthritis: A Case Report and Review of the Literature.
    Mod Rheumatol Case Rep. 2022 May 10:rxac040. doi: 10.1093/mrcr/rxac040. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/35534442/

ABRIL 2022

  • Kul Cinar O, Putland A, Wynne K, Eleftheriou D, Brogan PA.
    Hereditary Systemic Autoinflammatory Diseases: Therapeutic Stratification
    Front Pediatr. 2022 Apr 28;10:867679. doi: 10.3389/fped.2022.867679. eCollection 2022.
    https://pubmed.ncbi.nlm.nih.gov/35573950/

  • Schnabel A, Nashawi M, Anderson C, Felsenstein S, Lamoudi M, Poole-Cowley J, Lindell E, Oates B, Fowlie P, Walsh J, Ellis T, Hahn G, Goldspink A, Martin N, Mahmood K, Hospach T, Lj M, Hedrich CM.
    TNF-inhibitors or bisphosphonates in chronic nonbacterial osteomyelitis? - Results of an international retrospective multicenter study.
    Clin Immunol. 2022 May;238:109018. doi: 10.1016/j.clim.2022.109018. Epub 2022 Apr 20.
    https://pubmed.ncbi.nlm.nih.gov/35460903/

  • Hong Y, Casimir M, Houghton BC, Zhang F, Jensen B, Omoyinmi E, Torrance R, Papadopoulou C, Cummins M, Roderick M, Thrasher AJ, Brogan PA, Eleftheriou D.
    Lentiviral Mediated ADA2 Gene Transfer Corrects the Defects Associated With Deficiency of Adenosine Deaminase Type 2.
    Front Immunol. 2022 Apr 22;13:852830. doi: 10.3389/fimmu.2022.852830. eCollection 2022.
    https://pubmed.ncbi.nlm.nih.gov/35529868/

  • Batu ED, Basaran O, Bilginer Y, Ozen S.
    Familial Mediterranean Fever: How to Interpret Genetic Results? How to Treat? A Quarter of a Century After the Association with the Mefv Gene.
    Curr Rheumatol Rep. 2022 Apr 18. doi: 10.1007/s11926-022-01073-7. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/35435612/

 
MARZO 2022

  • Cetin Gedik K, Lamot L, Romano M, Demirkaya E, Piskin D, Torreggiani S, Adang LA, Armangue T, Barchus K, Cordova DR, Crow YJ, Dale RC, Durrant KL, Eleftheriou D, Fazzi EM, Gattorno M, Gavazzi F, Hanson EP, Lee-Kirsch MA, Montealegre Sanchez GA, Neven B, Orcesi S, Ozen S, Poli MC, Schumacher E, Tonduti D, Uss K, Aletaha D, Feldman BM, Vanderver A, Brogan PA, Goldbach-Mansky R.
    The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS.
    Arthritis Rheumatol. 2022 Mar 21. doi: 10.1002/art.42087. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/35315249/

  • Lee Y, Wessel AW, Xu J, Reinke JG, Lee E, Kim SM, Hsu AP, Zilberman-Rudenko J, Cao S, Enos C, Brooks SR, Deng Z, Lin B, de Jesus AA, Hupalo DN, Piotto DG, Terreri MT, Dimitriades VR, Dalgard CL, Holland SM, Goldbach-Mansky R, Siegel RM, Hanson EP
    Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype.
    J Clin Invest. 2022 Mar 15;132(6):e128808. doi: 10.1172/JCI128808.
    https://pubmed.ncbi.nlm.nih.gov/35289316/

  • Sun G, Qiu L, Yu L, An Y, Ding Y, Zhou L, Wu J, Yang X, Zhang Z, Tang X, Xia H, Cao L, You F, Zhao X, Du H.
    Loss of Function Mutation in ELF4 Causes Autoinflammatory and Immunodeficiency Disease in Human.
    J Clin Immunol. 2022 Mar 9. doi: 10.1007/s10875-022-01243-3. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/35266071/

  • Kırnaz B, Gezgin Y, Berdeli A.
    MEFV gene allele frequency and genotype distribution in 3230 patients' analyses by next generation sequencing methods.
    Gene. 2022 Mar 28:146447. doi: 10.1016/j.gene.2022.146447. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/35358658/

  • Zhong Z, Ding J, Su G, Liao W, Gao Y, Zhu Y, Deng Y, Li F, Du L, Gao Y, Yang P.
    Genetic and Clinical Features of Blau Syndrome among Chinese Patients with Uveitis.
    Ophthalmology. 2022 Mar 18:S0161-6420(22)00209-3. doi: 10.1016/j.ophtha.2022.03.014. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/35314268/

  • Aden S, Wong S, Yang C, Bui T, Higa T, Scheck J, Iyer RS, Egbert M, Lindberg A, Zhao Y.
    Increasing Cases of Chronic Nonbacterial Osteomyelitis in Children: a series of 215 cases from a single tertiary referral center.
    J Rheumatol. 2022 Mar 15:jrheum.210991. doi: 10.3899/jrheum.210991. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/35293328/

  • Gezgin Yıldırım D, Bakkaloğlu SA.
    Monogenic lupus caused by mutations in DNASE1L3: A rare cause of systemic lupus erythematosus in children
    Scand J Immunol. 2022 Mar 18:e13162. doi: 10.1111/sji.13162. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/35302646/

  • Rodrigues F, Cuisset L, Cador-Rousseau B, Giurgea I, Neven B, Buob D, Quartier P, Hachulla E, Lequerré T, Cam G, Boursier G, Hervieu V, Grateau G, Georgin-Lavialle S.
    AA Amyloidosis complicating cryopyrin-associated periodic syndrome: a study on 86 cases including 23 French patients and systematic review.
    Rheumatology (Oxford). 2022 Mar 9:keac145. doi: 10.1093/rheumatology/keac145. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/35262642/

  • Yamada SM, Pontillo A.
    The genetics behind inflammasome regulation.
    Mol Immunol. 2022 Mar 9;145:27-42. doi: 10.1016/j.molimm.2022.03.005. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/35278849/

 
FEBRERO 2022

  • Mathieu AL, Omarjee O, Walzer T, Belot A.
    Macrophage involvement in juvenile arthritis onset: LACC1 bridges the gap?.
    Med Sci (Paris). 2022 Feb;38(2):133-135. doi: 10.1051/medsci/2021253. Epub 2022 Feb 18.
    https://pubmed.ncbi.nlm.nih.gov/35179464/

  • Semo-Oz R, Biton B, Tesher MS.
    The Role of Anti-IL-1 Medications in Autoinflammatory Disease.
    Pediatr Ann. 2022 Feb;51(2):e72-e76. doi: 10.3928/19382359-20220115-01. Epub 2022 Feb 1.
    https://pubmed.ncbi.nlm.nih.gov/35156883/

  • Abbasi A, Batllori M, Gil-Sáez FJ, Rodríguez-Pintó I, Antón López J, Iglesias Jímenez E.
    Importance of the determination of enzymatic activity in the diagnosis of deficiency of adenosine deaminase 2 (DADA2).
    Med Clin (Barc). 2022 Feb 28:S0025-7753(22)00044-6. doi: 10.1016/j.medcli.2021.12.020. 
    https://pubmed.ncbi.nlm.nih.gov/35241284/

ENERO 2022

  • Cetin Gedik K, Lamot L, Romano M, Demirkaya E, Piskin D, Torreggiani S, Adang LA, Armangue T, Barchus K, Cordova DR, Crow YJ, Dale RC, Durrant KL, Eleftheriou D, Fazzi EM, Gattorno M, Gavazzi F, Hanson EP, Lee-Kirsch MA, Montealegre Sanchez GA, Neven B, Orcesi S, Ozen S, Poli MC, Schumacher E, Tonduti D, Uss K, Aletaha D, Feldman BM, Vanderver A, Brogan PA, Goldbach-Mansky R.
    The 2021 EULAR and ACR points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.
    Ann Rheum Dis. 2022 Jan 27:annrheumdis-2021-221814. doi: 10.1136/annrheumdis-2021-221814.
    https://pubmed.ncbi.nlm.nih.gov/35086813/

  • Borst C, Symmank D, Drach M, Weninger W.
    Cutaneous signs and mechanisms of inflammasomopathies.
    Ann Rheum Dis. 2022 Jan 17:annrheumdis-2021-220977. doi: 10.1136/annrheumdis-2021-220977.
    https://pubmed.ncbi.nlm.nih.gov/35039323/

  •  Beshlawy AE, Zekri AER, Ramadan MS, Selim YMM, Abdel-Salam A, Hegazy MT, Ragab L, Gaggiano C, Cantarini L, Ragab G.
    Genotype-phenotype associations in familial Mediterranean fever: a study of 500 Egyptian pediatric patients.
    Clin Rheumatol. 2022 Jan 6. doi: 10.1007/s10067-021-06006-w.
    https://pubmed.ncbi.nlm.nih.gov/34988684/

  • Avar-Aydın PO, Ozcakar ZB, Aydın F, Karakas HD, Cakar N, Yalcınkaya F.
    The expanded spectrum of arthritis in children with familial Mediterranean fever.
    Clin Rheumatol. 2022 Jan 28. doi: 10.1007/s10067-022-06082-6.
    https://pubmed.ncbi.nlm.nih.gov/35091781/

  • Yan K, Zhang J, Lee PY, Tao P, Wang J, Wang S, Zhou Q, Dong M.
    Haploinsufficiency of PSMD12 causes proteasome dysfunction and subclinical autoinflammation.
    Arthritis Rheumatol. 2022 Jan 26. doi: 10.1002/art.42070.
    https://pubmed.ncbi.nlm.nih.gov/35080150/

  • David C, Frémond ML.
    Lung Inflammation in STING-Associated Vasculopathy with Onset in Infancy (SAVI).
    Cells. 2022 Jan 18;11(3):318. doi: 10.3390/cells11030318.
    https://pubmed.ncbi.nlm.nih.gov/35159128/

  •  Delplanque M, Ducharme-Bénard S, Moguelet P, Chasset F, Grateau G, Georgin-Lavialle S, Bachmeyer C.
    Is neutrophilic dermatosis a manifestation of familial Mediterranean fever?
    Scand J Rheumatol. 2022 Jan;51(1):42-49. doi: 10.1080/03009742.2021.1904588.
    https://pubmed.ncbi.nlm.nih.gov/34159892/

 
DICIEMBRE 2021

  • Lin B, Goldbach-Mansky R.
    Pathogenic insights from genetic causes of autoinflammatory inflammasomopathies and interferonopathies.
    J Allergy Clin Immunol. 2021 Dec 7;S0091-6749(21)01685-7. doi: 10.1016/j.jaci.2021.10.027. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/34893352/

  •  Savic S, Coe J, Laws P.
    Autoinflammation: Interferonopathies and Other Autoinflammatory Diseases.
    J Invest Dermatol. 2021 Dec 7;S0022-202X(21)02406-4. doi: 10.1016/j.jid.2021.07.189. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/34887082/

  • Sota J, Rigante D, Cimaz R, Cattalini M, Frassi M et al.
    Drug survival of anakinra and canakinumab in monogenic autoinflammatory diseases: observational study from the International AIDA Registry.
    Rheumatology (Oxford). 2021 Dec 1;60(12):5705-5712. doi: 10.1093/rheumatology/keab419.
    https://pubmed.ncbi.nlm.nih.gov/33961014/

  •  Çiçek SO, Şahin N, Karaman ZF, Taşkın SN, Kısaarslan AP et al.
    The Possible Relationship Between Familial Mediterranean Fever and Chronic Nonbacterial Osteomyelitis: Coincidence or Coexistence?
    J Clin Rheumatol. 2021 Dec 1;27(8):e342-e348. doi: 10.1097/RHU.0000000000001431.
    https://pubmed.ncbi.nlm.nih.gov/32541616/

  •  Chavan PP, Aksentijevich I, Daftary A, Panwala H, Khemani C et al.
    Majeed Syndrome: Five Cases With Novel Mutations From Unrelated Families in India With a Review of Literature.
    J Rheumatol. 2021 Dec;48(12):1850-1855. doi: 10.3899/jrheum.201663. Epub 2021 May 15.
    https://pubmed.ncbi.nlm.nih.gov/33993107/

  • Vahidnezhad H, Youssefian L, Saeidian AH, Ziaee V et al.
    Homozygous MEFV Gene Variant and Pyrin-Associated Autoinflammation With Neutrophilic Dermatosis: A Family With a Novel Autosomal Recessive Mode of Inheritance.
    JAMA Dermatol. 2021 Dec 1;157(12):1466-1471. doi: 10.1001/jamadermatol.2021.3899.
    https://pubmed.ncbi.nlm.nih.gov/34643647/

  • Delaleu J, Deshayes S, Rodrigues F, Savey L, Rivière E et al.
    Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review.
    Rheumatology (Oxford). 2021 Dec 1;60(12):5775-5784. doi: 10.1093/rheumatology/keab252.
    https://pubmed.ncbi.nlm.nih.gov/33715002/

  • Hautala T, Vähäsalo P, Kuismin O, Keskitalo S, Rajamäki K et al.
    A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment.
    J Clin Rheumatol. 2021 Dec 1;27(8):e583-e587. doi: 10.1097/RHU.0000000000001268.
    https://pubmed.ncbi.nlm.nih.gov/31977656/

  • Rodrigues FG, Petrushkin H, Webster AR, Bickerstaff M et al.
    A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome.
    Ophthalmic Genet. 2021 Dec;42(6):753-764. doi: 10.1080/13816810.2021.1946701. Epub 2021 Jul 12.
    https://pubmed.ncbi.nlm.nih.gov/34251956/

  • Sikora KA, Wells K, Bolek EC, Jones AI, Grayson PC.
    Somatic Mutations in Rheumatologic Diseases: VEXAS Syndrome and Beyond.
    Rheumatology (Oxford). 2021 Dec 9;keab868. doi: 10.1093/rheumatology/keab868. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/34888629/ 

NOVIEMBRE 2021

  • Vinit C, Georgin-Lavialle S, Theodoropoulou A, Barbier C, Belot A, Mejbri M, Pillet P, Pachlopnik J, Poignant S, Rebelle C, Woerner A, Koné-Paut I, Hentgen V.
    Real-life indications of Interleukin-1 blocking agents in hereditary recurrent fevers: Data from the JIRcohort and a Literature Review.
    Front Immunol. 2021 Nov 11;12:744780. doi: 10.3389/fimmu.2021.744780.
    https://pubmed.ncbi.nlm.nih.gov/34858402/

  • Welzel T, Ellinghaus M, Wildermuth AL, Deschner N, Benseler SM, Kuemmerle-Deschner JB.
    Colchicine Effectiveness and Safety in Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis.
    Front Pediatr. 2021 Nov 25;9:759664. doi: 10.3389/fped.2021.759664.
    https://pubmed.ncbi.nlm.nih.gov/34900867/

  • Maccora I, Marrani E, Mastrolia MV, Abu-Rumeileh S, Maniscalco V, Fusco E, Barbati F, Pagnini I, Simonini G.
    Ocular involvement in monogenic autoinflammatory disease.
    Autoimmun Rev. 2021 Nov;20(11):102944. doi: 10.1016/j.autrev.2021.102944.
    https://pubmed.ncbi.nlm.nih.gov/34509650/

  • Zhang S, Cai Z, Mo X, Zeng H.
    Tofacitinib effectiveness in Blau syndrome: a case series of Chinese paediatric patients.
    Pediatr Rheumatol Online J. 2021 Nov 15;19(1):160. doi: 10.1186/s12969-021-00634-x.
    https://pubmed.ncbi.nlm.nih.gov/34781959/

  • Wang W, Wang W, Zhong LQ, Li WD, Wu SJ, Song HM.
    Thalidomide may be an effective drug for Blau syndrome: a case report
    Ann Palliat Med. 2021 Nov 9:apm-21-2216. doi: 10.21037/apm-21-2216. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/34775778/

  • Casas-Alba D, Darling A, Caballero E, Mensa-Vilaró A, Bartrons J, Antón J, García-Cazorla À, Vanderver A, Armangué T.
    Efficacy of baricitinib on chronic pericardial effusion in a patient with Aicardi-Goutières syndrome.
    Rheumatology (Oxford). 2021 Nov 30:keab860. doi: 10.1093/rheumatology/keab860. Epub ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/34850826/

  • Iyengar VV, Chougule A, Gowri V, Taur P, Prabhu S, Bodhanwala M, Desai MM.
    DADA2 presenting as nonimmune hemolytic anemia with recurrent macrophage activation syndrome.
    Pediatr Blood Cancer. 2021 Nov 22:e29461. doi: 10.1002/pbc.29461. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/34811889/

  •  Omoyinmi E, Rowczenio D, Sebire N, Brogan PA, Eleftheriou D.
    Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report.
    Pediatr Rheumatol Online J. 2021 Nov 22;19(1):161. doi: 10.1186/s12969-021-00645-8.
    https://pubmed.ncbi.nlm.nih.gov/34809655/

  • Jiang W, Deng M, Gan C, Wang L, Mao H, Li Q.
    A novel missense mutation in TNFAIP3 causes haploinsufficiency of A20.
    Cell Immunol. 2021 Nov 10;371:104453. doi: 10.1016/j.cellimm.2021.104453. Epub ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/34808442/

  •  Zeng J, Hao J, Zhou W, Zhou Z, Miao H.
    A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review.
    Front Pediatr. 2021 Nov 24;9:773112. doi: 10.3389/fped.2021.773112.
    https://pubmed.ncbi.nlm.nih.gov/34900872/

 
OCTUBRE 2021

  • Rood JE, Behrens EM.
    Inherited Autoinflammatory Syndromes.
    Annu Rev Pathol. 2021 Oct 26. doi: 10.1146/annurev-pathmechdis-030121-041528. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/34699263/

  • Marcuzzi A, Melloni E, Zauli G, Romani A, Secchiero P, Maximova N, Rimondi E.
    Autoinflammatory Diseases and Cytokine Storms-Imbalances of Innate and Adaptative Immunity.
    Int J Mol Sci. 2021 Oct 18;22(20):11241. doi: 10.3390/ijms222011241.
    https://pubmed.ncbi.nlm.nih.gov/34681901/ 

SEPTIEMBRE 2021

  • Fayand A, Chasset F, Boutboul D, Queyrel V, Tieulié N, Guichard I, Dupin N, Franck N, Cohen P, Bessis D, Guenno GL, Koné-Paut I, Belot A, Bonhomme A, Ducharme-Bénard S, Grateau G, Sarrabay G, Touitou I, Boursier G, Georgin-Lavialle S.
    DADA2 diagnosed in adulthood versus childhood: A comparative study on 306 patients including a systematic literature review and 12 French cases.
    Semin Arthritis Rheum. 2021 Sep 16;51(6):1170-1179. doi: 10.1016/j.semarthrit.2021.09.001. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/34571400/

  • Welzel T, Wildermuth AL, Deschner N, Benseler SM, Kuemmerle-Deschner JB.
    Colchicine - an effective treatment for children with a clinical diagnosis of autoinflammatory diseases without pathogenic gene variants.
    Pediatr Rheumatol Online J. 2021 Sep 14;19(1):142. doi: 10.1186/s12969-021-00588-0.
    https://pubmed.ncbi.nlm.nih.gov/34521435/

  • Hadjadj J, Frémond ML, Neven B.
    Emerging Place of JAK Inhibitors in the Treatment of Inborn Errors of Immunity.
    Front Immunol. 2021 Sep 17;12:717388. doi: 10.3389/fimmu.2021.717388. eCollection 2021.
    https://pubmed.ncbi.nlm.nih.gov/34603291/

  • Maccora I, Marrani E, Mastrolia MV, Abu-Rumeileh S, Maniscalco V, Fusco E, Barbati F, Pagnini I, Simonini G.
    Ocular involvement in monogenic autoinflammatory disease: A systematic literature review.
    Autoimmun Rev. 2021 Sep 9:102944. doi: 10.1016/j.autrev.2021.102944. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/34509650/

  • Tucker LB, Niemietz I, Mangat P, Belen M, Tekano J, Cabral DA, Guzman J, Houghton KM, Morishita KA, Chan MO, Human A, Sundqvist M, Brown KL.
    Children with systemic autoinflammatory diseases have multiple, mixed ethnicities that reflect regional ethnic diversity.
    Clin Exp Rheumatol. 2021 Sep-Oct;39 Suppl 132(5):124-128. Epub 2021 Sep 29.
    https://pubmed.ncbi.nlm.nih.gov/34596025/

  • Lachmann HJ, Lauwerys B, Miettunen P, Kallinich T, Jansson A, Rosner I, Manna R, Murias S, Savic S, Smeets S, De Benedetti F, Simon A.
    Canakinumab improves patient-reported outcomes in children and adults with autoinflammatory recurrent fever syndromes: results from the CLUSTER trial.
    Clin Exp Rheumatol. 2021 Sep-Oct;39 Suppl 132(5):51-58. Epub 2021 Oct 6.
    https://pubmed.ncbi.nlm.nih.gov/34622762/

  • Bader-Meunier B, Martins AL, Charbit-Henrion F, Meinzer U, Belot A, Cuisset L, et al.
    Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease.
    Inflamm Bowel Dis. 2021 Sep 15:izab139. doi: 10.1093/ibd/izab139. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/34525209/

  • Jeyaratnam J, Simon A, Calvo I, Constantin T, Shcherbina A, Hofer M, Gattorno M, Martini A, Bader-Meunier B, Vastert B, Levy J, Dekker E, de Benedetti F, Frenkel.
    Long-term efficacy and safety of canakinumab in patients with mevalonate kinase deficiency: results from the randomised Phase 3 CLUSTER trial.
    J.Rheumatology (Oxford). 2021 Sep 23:keab696. doi: 10.1093/rheumatology/keab696. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/34554243/

  • Gaggiano C, Rigante D, Hernández-Rodríguez J, Vitale A, Tarsia M, Soriano A, et al.
    Anakinra and canakinumab for patients with R92Q-associated autoinflammatory syndrome: a multicenter observational study from the AIDA Network.
    Ther Adv Musculoskelet Dis. 2021 Sep 9;13:1759720X211037178. doi: 10.1177/1759720X211037178. eCollection 2021.
    https://pubmed.ncbi.nlm.nih.gov/34527082/

  • Otar Yener G, Paç Kısaarslan A, Ulu K, Atalay E, Haşlak F, Özdel S, et al.
    Differences and similarities of multisystem inflammatory syndrome in children, Kawasaki disease and macrophage activating syndrome due to systemic juvenile idiopathic arthritis: a comparative study.
    Rheumatol Int. 2021 Sep 7:1-11. doi: 10.1007/s00296-021-04980-7. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/34491393/

  • Yücel BB, Aydog O, Nalcacioglu H, Yılmaz A
    Effectiveness of Canakinumab Treatment in Colchicine Resistant Familial Mediterranean Fever Cases
    Front Pediatr. 2021 Sep 10;9:710501. doi: 10.3389/fped.2021.710501. eCollection 2021.
    https://pubmed.ncbi.nlm.nih.gov/34568239/

  • Karabulut Y, Gezer HH, Duruöz MT
    Canakinumab is effective in patients with familial Mediterranean fever resistant and intolerant to the colchicine and/or anakinra treatment.
    Rheumatol Int. 2021 Sep 22. doi: 10.1007/s00296-021-04997-y. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/34550430/

  • Kopeć M, Brąszewska M, Jarosz M, Dylewska K, Kurylak A.
    Role of Diagnostic Imaging in Chronic Recurrent Multifocal Osteomyelitis (CRMO) in Children: An Observational Study.
    Children (Basel). 2021 Sep 10;8(9):792. doi: 10.3390/children8090792.
    https://pubmed.ncbi.nlm.nih.gov/34572224/

  • Cafaro A, Pigliasco F, Barco S, Penco F, Schena F, Caorsi R, Volpi S, Tripodi G, Gattorno M, Cangemi G
    A Novel LC-MS/MS-Based Method for the Diagnosis of ADA2 Deficiency from Dried Plasma Spot.
    Molecules. 2021 Sep 21;26(18):5707. doi: 10.3390/molecules26185707.
    https://pubmed.ncbi.nlm.nih.gov/34577178/

 
AGOSTO 2021

  • Szekanecz Z, McInnes IB, Schett G, Szamosi S, Benkő S, Szűcs G
    Autoinflammation and autoimmunity across rheumatic and musculoskeletal diseases.
    Nat Rev Rheumatol. 2021 Aug 2. doi: 10.1038/s41584-021-00652-9. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/34341562/

  • Schaal MC, Gendler L, Ammann B, Eberhardt N, Janda A, Morbach H, Darge K, Girschick H, Beer M.
    Imaging in non-bacterial osteomyelitis in children and adolescents: diagnosis, differential diagnosis and follow-up-an educational review based on a literature survey and own clinical experiences.
    Insights Imaging. 2021 Aug 9;12(1):113. doi: 10.1186/s13244-021-01059-6.
    https://pubmed.ncbi.nlm.nih.gov/34370119/

  • Peet CJ, Papadopoulou C, Sombrito BRM, Wood MR, Lachmann HJ.
    COVID-19 and autoinflammatory diseases: prevalence and outcomes of infection and early experience of vaccination in patients on biologics.
    Rheumatol Adv Pract. 2021 Aug 23;5(2):rkab043. doi: 10.1093/rap/rkab043
    https://pubmed.ncbi.nlm.nih.gov/34466775/

  • Aarts P, Dudink K, Vossen ARJV, van Straalen KR, Ardon CB, Prens EP, van der Zee HH.
    Clinical Implementation of Biologics and Small Molecules in the Treatment of Hidradenitis Suppurativa.
    Drugs. 2021 Aug;81(12):1397-1410. doi: 10.1007/s40265-021-01566-2.
    https://pubmed.ncbi.nlm.nih.gov/34283386/

  • Sharma A, Naidu G, Deo P, Beck DB.
    VEXAS syndrome with systemic lupus erythematosus- expanding the spectrum of associated conditions.
    Arthritis Rheumatol. 2021 Aug 30. doi: 10.1002/art.41957. Online ahead of print
    https://pubmed.ncbi.nlm.nih.gov/34463053/

  • Obiorah IE, Patel BA, Groarke EM, Wang W, Trick M, Ombrello AK, et al.
    Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1.
    Blood Adv. 2021 Aug 24;5(16):3203-3215. doi: 10.1182/bloodadvances.2021004976.
    https://pubmed.ncbi.nlm.nih.gov/34427584/

  • Papa R, Rusmini M, Schena F, Traggiai E, Coccia MC, Caorsi R, Arrigo S, Pasetti F, Signa S, Barone P, Santamaria G, Spirito G, Sanges R, Vozzi D, Cavalli A, Gustincich S, Ravelli A, Gattorno M, Ceccherini I, Volpi S.
    Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).
    Clin Immunol. 2021 Aug 26:108837. doi: 10.1016/j.clim.2021.108837. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/34455097/

  • Vahedi M, Parvaneh N, Vahedi S, Shahrooei M, Ziaee V.
    Identification of a New Variant in NLRP3 Gene by Whole Exome Sequencing in a Patient with Cryopyrin-Associated Periodic Syndrome.
    Case Reports Immunol. 2021 Aug 16;2021:2023119. doi: 10.1155/2021/2023119
    https://pubmed.ncbi.nlm.nih.gov/34447596/

  • Vai S, Marin E, Cosso R, Saettini F, Bonanomi S, Cattoni A, Chiodini I, Persani L, Falchetti A.
    A Novel Germline Mutation of ADA2 Gene in Two "Discordant" Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype
    Int J Mol Sci. 2021 Aug 3;22(15):8331. doi: 10.3390/ijms22158331.
    https://pubmed.ncbi.nlm.nih.gov/34361096

  • Verhoeven D, Schonenberg-Meinema D, Ebstein F, Papendorf JJ, Baars PA, van Leeuwen EMM, et al.
    Hematopoietic stem cell transplantation in a patient with proteasome-associated auto-inflammatory syndrome (PRAAS).
    J Allergy Clin Immunol. 2021 Aug 17:S0091-6749(21)01244-6. doi: 10.1016/j.jaci.2021.07.039. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/34416217/

 
JULIO 2021

  • Ozen S, Lutz HL, Rivera VM, Reiff A, Batu ED, Anderson E, Salas Garcia M, Aldrovandi G, Akbaba TH, Pazarbasi İ, Bilginer Y, Balat A, Balci-Peynircioglu B, Gilbert JA, Dedeoglu F, Hausmann JS.
    Microbiome is not linked to clinical disease severity of familial Mediterranean fever in an international cohort of children.
    Clin Exp Rheumatol. 2021 Jul 5. Epub ahead of print. PMID: 34251310.
    https://pubmed.ncbi.nlm.nih.gov/34251310/

 
JUNIO 2021
 

  • Ozen S, Lutz HL, Rivera VM, Reiff A, Batu ED, Anderson E, Salas Garcia M, Aldrovandi G, Akbaba TH, Pazarbasi İ, Bilginer Y, Balat A, Balci-Peynircioglu B, Gilbert JA, Dedeoglu F, Hausmann JS.
    Microbiome is not linked to clinical disease severity of familial Mediterranean fever in an international cohort of children.
    Clin Exp Rheumatol. 2021 Jul 5. Epub ahead of print. PMID: 34251310.
    https://pubmed.ncbi.nlm.nih.gov/34251310/

  • Atas N, Eroglu GA, Sodan HN, Ozturk BO, Babaoglu H, Satis H, et al.
    Long-term safety and efficacy of anakinra and canakinumab in patients with familial Mediterranean fever: a single-centre real-life study with 101 patients
    Clin Exp Rheumatol. 2021 Jun 21. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/34251317/
  •  Liu J, Yu X, Li C, Wang Y, Yu W, Shen M, Zheng W.
    Behcet's Syndrome in a Chinese Pedigree of NLRP3-Associated Autoinflammatory Disease: A Coexistence or Novel Presentation?
    Front Med (Lausanne). 2021 Jun 24;8:695197. doi: 10.3389/fmed.2021.695197.
    https://pubmed.ncbi.nlm.nih.gov/34249981/
  • Athanassios Kolivras, Isabelle Meiers, Ursula Sass, Curtis T Thompson.
    Histologic Patterns and Clues to Autoinflammatory Diseases in Children: What a Cutaneous Biopsy Can Tell Us.
    Dermatopathology (Basel). 2021 Jun 8;8(2):202-220. doi: 10.3390/dermatopathology8020026.
    https://pubmed.ncbi.nlm.nih.gov/34201078/
  •  Wang L, Wen W, Deng M, Li Y, Sun G, Zhao X, Tang X, Mao H.
    A Novel Mutation in the NBD Domain of NLRC4 Causes Mild Autoinflammation With Recurrent Urticaria.
    Front Immunol. 2021 Jun 23;12:674808. doi: 10.3389/fimmu.2021.674808.
    https://pubmed.ncbi.nlm.nih.gov/34248956/
 
MAYO 2021

  • Walker UA, Tilson HH, Hawkins PN, Poll TV, Noviello S, Levy J, Vritzali E, Hoffman HM, Kuemmerle-Deschner JB; CACZ885D2401 Study Investigators.
    Long-term safety and effectiveness of canakinumab therapy in patients with cryopyrin-associated periodic syndrome: results from the β-Confident Registry.
    RMD Open. 2021 May;7(2):e001663. doi:10.1136/rmdopen-2021-001663
    https://pubmed.ncbi.nlm.nih.gov/34001647/

  • Sota J, Rigante D, Cimaz R, Cattalini M, Frassi M, Manna R, Sicignano LL, Verrecchia E, Aragona E, Maggio MC, Lopalco G, Emmi G, Parronchi P, Cauli A, Wiesik-Szewczyk E, Hernández-Rodríguez J, Gaggiano C, Tarsia M, Mourabi M, Ragab G, Vitale A, Fabiani C, Frediani B, Lamacchia V, Renieri A, Luca C; Autoinflammatory Diseases Alliance (AIDA) and the Autoinflammatory Diseases Working Group of the Italian Society of Rheumatology (SIR).
    Drug survival of anakinra and canakinumab in monogenic autoinflammatory diseases: observational study from the International AIDA Registry.
    Rheumatology (Oxford). 2021 May 7:keab419. doi:10.1093/rheumatology/keab419
    https://pubmed.ncbi.nlm.nih.gov/33961014/

  •  Zhang D, Su G, Zhou Z, Lai J.
    Clinical characteristics and genetic analysis of A20 haploinsufficiency.
    Pediatr Rheumatol Online J. 2021 May 24;19(1):75. doi10.1186/s12969-021-00558-6
    https://pubmed.ncbi.nlm.nih.gov/34030699/

  •  Butbul Aviel Y, Rawan S, Fahouma S, Wexler I, Berkund Y.
    Discontinuation of colchicine therapy in children with Familial Mediterranean Fever.
    J Rheumatol. 2021 May 15:jrheum.201158. doi:10.3899/jrheum.201158
    https://pubmed.ncbi.nlm.nih.gov/33993110/

  •  Girardelli M, Valencic E, Moressa V, Margagliotta R, Tesser A, Pastore S, Spadola O, Athanasakis E, Severini GM, Taddio A, Tommasini A.
    Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation.
    Pediatr Rheumatol Online J. 2021 May 10;19(1):70. doi:10.1186/s12969-021-00552-y
    https://pubmed.ncbi.nlm.nih.gov/33971891/

 
ABRIL 2021

  • Manna R, Rigante D.
    The everchanging framework of autoinflammation.
    Intern Emerg Med. 2021 May 17. doi: 10.1007/s11739-021-02751-7.
    https://pubmed.ncbi.nlm.nih.gov/33999387/

  • Gómez-Arias PJ, Gómez-García F, Hernández-Parada J, Montilla-López AM, Ruano J, Parra-Peralbo E
    Efficacy and Safety of Janus Kinase Inhibitors in Type I Interferon-Mediated monogenic Autoinflammatory Disorders: A Scoping Review.
    Dermatol Ther (Heidelb). 2021 Apr 15. doi: 10.1007/s13555-021-00517-9.
    https://pubmed.ncbi.nlm.nih.gov/33856640/

     

MARZO 2021

  • Kataoka S, Kawashima N, Okuno Y, Muramatsu H, Miwata S, Narita K, et al.
    Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor.
    J Allergy Clin Immunol. 2021 Mar 13:S0091-6749(21)00378-X. doi: 10.1016/j.jaci.2021.03.010. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/33727065/

  • Yasudo H, Ando T, Maehara A, Ando T, Izawa K, Tanabe A, et al.
    A possible association between a novel NLRP1 mutation and an autoinflammatory disease involving liver cirrhosis.
    Hepatology. 2021 Mar 19. doi: 10.1002/hep.31818. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/33738798/ 

  • Del Borrello G, Guardo D, Micalizzi C, Ceccherini I, Miano M, Gattorno M, Dufour C.
    Hemolysis and Neurologic Impairment in PAMI Syndrome: Novel Characteristics of an Elusive Disease.
    Pediatrics. 2021 Mar;147(3):e20200784. doi: 10.1542/peds.2020-0784.
    https://pubmed.ncbi.nlm.nih.gov/33597285/ 

  • O'Leary D, Wilson AG, MacDermott EJ, Lowry C, Killeen OG.
    Variability in phenotype and response to treatment in chronic nonbacterial osteomyelitis; the Irish experience of a national cohort.
    Pediatr Rheumatol Online J. 2021 Mar 25;19(1):45. doi: 10.1186/s12969-021-00530-4.
    https://pubmed.ncbi.nlm.nih.gov/33766071/ 

  • Zou J, Luo JF, Shen Y, Guan JL.
    Distinct clinical characteristics of pediatric Behcet's syndrome: A study from a referral center in China.
    Mod Rheumatol. 2021 Mar 16:1-6. doi: 10.1080/14397595.2021.1891670. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/33627024/ 

  • Delaleu J, Deshayes S, Rodrigues F, Savey L, Rivière E, Martin Silva N, A
    Tumor necrosis factor receptor-1 associated periodic syndrome (TRAPS) related AA amyloidosis: a national case series and systematic review.
    Rheumatology (Oxford). 2021 Mar 14:keab252. doi: 10.1093/rheumatology/keab252. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/33715002/ 

  • Pinto B, Deo P, Sharma S, Syal A, Sharma A.
    Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment.
    Clin Rheumatol. 2021 Mar 31. doi: 10.1007/s10067-021-05711-w. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/33791889/ 

  • Al-Mayouf SM, Yateem M, Al-Dusery H, Monies D, Wakil S, AlShiakh M, AlEnazi A, Aladaileh B, Alzyoud R, Meyer B.
    New or vanishing frontiers: LACC1-associated juvenile arthritis.
    Int J Pediatr Adolesc Med. 2021 Mar;8(1):44-47. doi: 10.1016/j.ijpam.2020.11.005.
    https://pubmed.ncbi.nlm.nih.gov/33718577/ 

  • Omarjee O, Mathieu AL, Quiniou G, Moreews M, Ainouze M, Frachette C, et al
    LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages.
    J Exp Med. 2021 Mar 1;218(3):e20201006. doi: 10.1084/jem.20201006.
    https://pubmed.ncbi.nlm.nih.gov/33606008/ 

  • Michev A, Borghesi A, Tretti C, Martella M, Di Comite A, Biffi A, Marzollo A, Bresolin S.
    Neonatal-Onset Familial Mediterranean Fever in an Infant with Human Parainfluenza Virus-4 Infection.
    Neonatology. 2021 Mar 31:1-5. doi: 10.1159/000514694. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/33789313/ 

  • Sari A, Bodakçi E, Armagan B, Satis H, Atas N, Yasar Bİlge NŞ, et al.
    Phenotypic characterisation of Familial Mediterranean Fever patients harboring variants of uncertain significance.
    Turk J Med Sci. 2021 Mar 17. doi: 10.3906/sag-2011-273. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/33726481/ 

  • Korkmaz C, Üsküdar Cansu D, Kabay SC.
    Familial coexistence of demyelinating diseases and familial Mediterranean fever.
    Rheumatol Int. 2021 Mar 13. doi: 10.1007/s00296-021-04821-7. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/33715072/ 

  • Van Nieuwenhove E, De Langhe E, Dooley J, Van Den Oord J, Shahrooei M, Parvaneh N, et al.
    Phenotypic analysis of Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis patients during treatment.
    Rheumatology (Oxford). 2021 Mar 8:keab221. doi: 10.1093/rheumatology/keab221. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/33693560/ 

  • Orlando F, Naddei R, Stellacci E, Gallinoro CM, Melis D, Tartaglia M, Alessio M.
    Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review.
    Clin Rheumatol. 2021 Mar 1. doi: 10.1007/s10067-021-05653-3. Online ahead of print.
    ttps://pubmed.ncbi.nlm.nih.gov/33646446/ 

  • Huang H, Zhang W, Cai W, Liu J, Wang H, Qin T, et al.
    VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder.
    Exp Hematol Oncol. 2021 Mar 19;10(1):23. doi: 10.1186/s40164-021-00217-2.
    https://pubmed.ncbi.nlm.nih.gov/33741056/

FEBRERO 2021
ENERO 2021
  • Ayaz NA, Tanatar A, Karadağ ŞG, Çakan M, Keskindemirci G, Sönmez HE.
    Comorbidities and phenotype-genotype correlation in children with familial Mediterranean fever.
    Rheumatol Int. 2021 Jan;41(1):113-120. doi: 10.1007/s00296-020-04592-7. Epub 2020 Apr 28. PMID: 32347339.
    https://pubmed.ncbi.nlm.nih.gov/32347339/
  • Karpuzoglu EM, Kisla Ekinci RM, Balci S, Bisgin A, Yilmaz M.
    Altered expression of apoptosis-related, circulating cell-free miRNAs in children with familial Mediterranean fever: a cross-sectional study.
    Rheumatol Int. 2021 Jan;41(1):103-111. doi: 10.1007/s00296-020-04541-4. Epub 2020 Mar 5. PMID: 32140884.
    https://pubmed.ncbi.nlm.nih.gov/32140884/
  • Aviel YB, Ofir A, Ben-Izhak O, Vlodavsky E, Karbian N, Brik R, Mevorach D, Magen D.
    A novel loss-of-function mutation in LACC1 underlies hereditary juvenile arthritis with extended intra-familial phenotypic heterogeneity.
    Rheumatology (Oxford). 2021 Jan 25:keab017. doi: 10.1093/rheumatology/keab017. Epub ahead of print. PMID: 33493343.
    https://pubmed.ncbi.nlm.nih.gov/33493343/
DICIEMBRE 2020
  • Bardou MLD, Rivitti-Machado MC, Michalany NS, de Jesus AA, Goldbach-Mansky R, Barros JCR, Terreri MTSELRA, Grumach AS.
    Neutrophilic dermatosis: a new skin manifestation and novel pathogenic variant in a rare autoinflammatory disease.
    Australas J Dermatol. 2020 Dec 17. doi: 10.1111/ajd.13527
    https://pubmed.ncbi.nlm.nih.gov/33332575/

  • Özen S, Sag E, Ben-Chetrit E, Gattorno M, Gül A, Hashkes PJ, Kone-Paut I, Lachmann HJ, Tsitsami E, Twilt M, de Benedetti F, Kuemmerle-Deschner JB.
    Defining colchicine resistance/intolerance in patients with familial Mediterranean fever: a modified-Delphi consensus approach.
    Rheumatology (Oxford). 2020 Dec 17:keaa863
    https://pubmed.ncbi.nlm.nih.gov/33331943/

  • Boleto G, El Chamieh C, Biard L, Koné-Paut I, Hentgen V, Boursier G, Sarrabay G, Cacoub P, Touitou I, Saadoun D.
    Correspondance on 'Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases'.
    Ann Rheum Dis. 2020 Dec 9:annrheumdis-2020-219566
    https://pubmed.ncbi.nlm.nih.gov/33298408/

  • Ugurlu S, Ergezen B, Egeli BH, Selvi O, Ozdogan H.
    Anakinra treatment in patients with familial Mediterranean fever: a single-centre experience.
    Rheumatology (Oxford). 2020 Dec 9:keaa596
    https://pubmed.ncbi.nlm.nih.gov/33295622/

  • Oldham J, Lachmann HJ.
    The systemic autoinflammatory disorders for dermatologists. Part 1: overview.
    Clin Exp Dermatol. 2020 Dec;45(8):962-966
    https://pubmed.ncbi.nlm.nih.gov/32901977/

  • Oldham J, Lachmann HJ.
    The systemic autoinflammatory disorders for dermatologists. Part 2: disease examples.
    Clin Exp Dermatol. 2020 Dec;45(8):967-973
    https://pubmed.ncbi.nlm.nih.gov/32882069/

  • Ziegeler K, Eshed I, Diekhoff T, Hermann KG.
    Imaging of Joints and Bones in Autoinflammation.
    J Clin Med. 2020 Dec 17;9(12):4074
    https://pubmed.ncbi.nlm.nih.gov/33348664/

  • Mulazzani E, Zolyniak N, Noe E, Mulazzani M, Azad SC, Kümpfel T, Kraft E.
    Clinical and psychological phenomenology of pain in autoinflammatory diseases.
    BMC Rheumatol. 2020 Dec 18;4(1):71
    https://pubmed.ncbi.nlm.nih.gov/33334368/

  • Bhatt H, Cascella M.
    Familial Mediterranean Fever.
    2020 Dec 1. In: StatPearls [Internet]https://pubmed.ncbi.nlm.nih.gov/32809589/

  • Ben-David Y, Gur M, Ilivitzki A, Khoury A, Bentur L, Butbul Aviel Y.
    Atypical cardiopulmonary manifestations in pediatric Behçet's disease.
    Pediatr Pulmonol. 2020 Dec;55(12):3407-3413
    https://pubmed.ncbi.nlm.nih.gov/32915509/

  • Amarilyo G, Harel L, Abu Ahmad S, Abu Rumi M, Brik R, Hezkelo N, Bar-Yoseph R, Mei-Zahav M, Ohana O, Levinsky Y, Chodick G, Butbul-Aviel Y.
    Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis Syndrome - Is It Related to Ethnicity? An Israeli Multicenter Cohort Study.
    J Pediatr. 2020 Dec;227:268-273
    https://pubmed.ncbi.nlm.nih.gov/32805260/

NOVIEMBRE 2020

  • Sözeri B, Demir F, Sönmez HE, Karadağ ŞG, Demirkol YK, Doğan ÖA, Doğanay HL, Ayaz NA.
    Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases.
    Clin Rheumatol. 2020 Nov 9. doi: 10.1007/s10067-020-05492-8.
    https://pubmed.ncbi.nlm.nih.gov/33165748/

  • Papa R, Lane T, Minden K, Touitou I, Cantarini L, Cattalini M, Obici L, Jansson AF, Belot A, Frenkel J, Anton J, Wolska-Kusnierz B, Berendes R, Remesal A, Jelusic M, Hoppenreijs E, Espada G, Nikishina I, Maggio MC, Bovis F, Masini M, Youngstein T, Rezk T, Papadopoulou C, Brogan PA, Hawkins PN, Woo P, Ruperto N, Gattorno M, Lachmann HJ; Pediatric Rheumatology International Trials Organization (PRINTO), the EUROTRAPS and the Eurofever Project.
    INSAID variant classification and Eurofever criteria guide optimal treatment strategy in patients with TRAPS: data from the Eurofever registry.
    J Allergy Clin Immunol Pract. 2020 Nov 9:S2213-2198(20)31208-3. doi: 10.1016/j.jaip.2020.10.053
    https://pubmed.ncbi.nlm.nih.gov/33181346/
  • Fayand A, Savey L, Ducharme-Bénard S, Grateau G, Georgin-Lavialle S.
    Prescription of interleukin-1 inhibitors in a French adult cohort of familial Mediterranean fever.
    Eur J Intern Med. 2020 Nov 19:S0953-6205(20)30411-8. doi: 10.1016/j.ejim.2020.11.001
    https://pubmed.ncbi.nlm.nih.gov/33223329/
  • Pham F, Schissler C, Schaeffer M, Lachmann HJ, Lipsker D.
    Diagnostic value of skin biopsy in autoinflammatory diseases for patients with recurrent fever and urticarial eruption.
    Clin Exp Dermatol. 2020 Nov 13. doi: 10.1111/ced.14508
    https://pubmed.ncbi.nlm.nih.gov/33185903/
  • Boursier G, Piram M, Rittore C, Sarrabay G, Touitou I.
    Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases.
    J Invest Dermatol. 2020 Nov 17:S0022-202X(20)32168-0. doi:10.1016/j.jid.2020.08.028
    https://pubmed.ncbi.nlm.nih.gov/33218716/
  • Bourguiba R, Delplanque M, Vinit C, Ackermann F, Savey L, Grateau G, Hentgen V, Georgin-Lavialle S.
    Clinical course of COVID-19 in a cohort of 342 familial Mediterranean fever patients with a long-term treatment by colchicine in a French endemic area.
    Ann Rheum Dis. 2020 Nov 2:annrheumdis-2020-218707. doi: 10.1136/annrheumdis-2020-218707
    https://pubmed.ncbi.nlm.nih.gov/33139307/
  • Nigrovic PA, Lee PY, Hoffman HM.
    Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach.
    J Allergy Clin Immunol. 2020 Nov;146(5):925-937.
    https://pubmed.ncbi.nlm.nih.gov/33160483/
 
OCTUBRE 2020

  • Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, Balanda N, Ross DL, Ospina Cardona D, Wu Z, Patel B, Manthiram K, Groarke EM, Gutierrez-Rodrigues F, Hoffmann P, Rosenzweig S, Nakabo S, Dillon LW, Hourigan CS, Tsai WL, Gupta S, Carmona-Rivera C, Asmar AJ, Xu L, Oda H, Goodspeed W, Barron KS, Nehrebecky M, Jones A, Laird RS, Deuitch N, Rowczenio D, Rominger E, Wells KV, Lee CR, Wang W, Trick M, Mullikin J, Wigerblad G, Brooks S, Dell'Orso S, Deng Z, Chae JJ, Dulau-Florea A, Malicdan MCV, Novacic D, Colbert RA, Kaplan MJ, Gadina M, Savic S, Lachmann HJ, Abu-Asab M, Solomon BD, Retterer K, Gahl WA, Burgess SM, Aksentijevich I, Young NS, Calvo KR, Werner A, Kastner DL, Grayson PC.
    Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
    N Engl J Med. 2020 Oct 27. doi: 10.1056/NEJMoa2026834. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/33108101/

  • Maniscalco V, Abu-Rumeileh S, Mastrolia MV, Marrani E, Maccora I, Pagnini I, Simonini G.
    The off-label use of anakinra in pediatric systemic autoinflammatory diseases.
    Ther Adv Musculoskelet Dis. 2020 Oct 16;12:1759720X20959575.
    https://pubmed.ncbi.nlm.nih.gov/33149772/

  • Yildiz M, Haslak F, Adrovic A, Gucuyener N, Ulkersoy I, Koker O, Sahin S, Unlu G, Barut K, Kasapcopur O.
    Independent risk factors for resolution of periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome within 4 years after the disease onset
    Clin Rheumatol. 2020 Oct 16. doi: 10.1007/s10067-020-05466-w. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/33067771/

  • d'Angelo P, de Horatio LT, Toma P, Ording Müller LS, Avenarius D, von Brandis E, Zadig P, Casazza I, Pardeo M, Pires-Marafon D, Capponi M, Insalaco A, Fabrizio B, Rosendahl K.
    Chronic nonbacterial osteomyelitis - clinical and magnetic resonance imaging features.
    Pediatr Radiol. 2020 Oct 9. doi: 10.1007/s00247-020-04827-6. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/33033917/

 
SEPTIEMBRE 2020

  • Rama M, Mura T, Kone-Paut I, Boursier G, Aouinti S, Touitou I, Sarrabay G.
    Is gene panel sequencing more efficient than clinical-based gene sequencing to diagnose autoinflammatory diseases? A randomized study.
    Clin Exp Immunol. 2020 Sep 9. doi: 10.1111/cei.13511. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/32909274/

  • Paç Kısaarslan A, Şahin N, Özdemir Çiçek S, Gündüz Z, Poyrazoğlu H, Düşünsel R.
    Evaluation of familial Mediterranean fever patients concomitant with juvenile spondyloarthropathy.
    Mod Rheumatol. 2020 Sep 7:1-7. doi: 10.1080/14397595.2020.1812809. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/32815445/

  • Sen N, Yilmaz M, Mercan R, Volkan O, Yilmaz-Oner S, Tukel E, Tezcan ME.
    Enthesitis may be one of the signs of severe disease in familial Mediterranean fever.
    Clin Rheumatol. 2020 Sep 12. doi: 10.1007/s10067-020-05392-x. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/32920724/

  • Ben-David Y, Gur M, Ilivitzki A, Khoury A, Bentur L, Butbul Aviel Y.
    Atypical cardiopulmonary manifestations in pediatric Behçet's disease.
    Pediatr Pulmonol. 2020 Sep 11. doi: 10.1002/ppul.25068. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/32915509/

  • Lopalco G, Rigante D, Lopalco A, Emmi G, Venerito V, Vitale A, Capozio G, Denora N, Cantarini L, Iannone F.
    Safety of systemic treatments for Behçet's syndrome.
    Expert Opin Drug Saf. 2020 Sep 15:1-33. doi: 10.1080/14740338.2020.1817379. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/32883123/

  • Frémond ML, Nathan N.
    COPA syndrome, 5 years after: where are we?
    Joint Bone Spine. 2020 Sep 9:S1297-319X(20)30155-X. doi: 10.1016/j.jbspin.2020.09.002. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/32919065/

  • Nikolakis G, Kaleta KP, Vaiopoulos AG, Wolter K, Baroud S, Wojas-Pelc A, Zouboulis CC.
    Phenotypes and Pathophysiology of Syndromic Hidradenitis Suppurativa: Different Faces of the Same Disease? A Systematic Review.
    Dermatology. 2020 Sep 17:1-25. doi: 10.1159/000509873. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/32942279/

  • Broderick L, Hoffman HM.
    Pediatric Recurrent Fever and Autoinflammation from the Perspective of an Allergist/Immunologist.
    J Allergy Clin Immunol. 2020 Sep 28:S0091-6749(20)31330-0. doi: 10.1016/j.jaci.2020.09.019. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/33002514/

  • Turan H, Yildiz M, Civan O, Cakir AD, Tarcin G, Ozer Y, Bayramli Z, Kucur M, Adaletli I, Adrovic A, Barut K, Ercan O, Kasapcopur O, Evliyaoglu SO.
    Evaluation of the thyroid disorders in children with familial Mediterranean fever
    Clin Rheumatol. 2020 Sep 30. doi: 10.1007/s10067-020-05430-8. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/32996072/

  • Wu N, Shao Y, Huo J, Zhang Y, Cao Y, Jing H, Zhang F, Yu C, Yu Y, Li C, Song H, Zhang W.
    Clinical characteristics of pediatric synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome: the first Chinese case series from a single center.
    Clin Rheumatol. 2020 Sep 15. doi: 10.1007/s10067-020-05393-w. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/32929648/

  • Maitrepierre F, Marzano AV, Lipsker D.
    A Unified Concept of Acne in the PAPA Spectrum Disorders.
    Dermatology. 2020 Sep 16:1-8. doi: 10.1159/000509874. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/32937626/

  • Klein A, Cremer P, Kontzias A, Furqan M, Forsythe A, Crotty C, Lim-Watson M, Magestro M.
    Clinical Burden and Unmet Need in Recurrent Pericarditis: A Systematic Literature Review.
    Cardiol Rev. 2020 Sep 18. doi: 10.1097/CRD.0000000000000356. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/32956167/

 
AGOSTO 2020

  • Tsoukas P, Laxer RM.
    Follow the complex bread crumbs: A review of autoinflammation for the general paediatrician.
    Paediatr Child Health. 2020 Aug;25(5):279-285. doi: 10.1093/pch/pxz072. Epub 2019 Jul 18.
    https://pubmed.ncbi.nlm.nih.gov/32765163/

  • Gaggiano C, Vitale A, Obici L, Merlini G, Soriano A, Viapiana O, et al.
    Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor-Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA.
    Mediators Inflamm. 2020 Aug 7;2020:8562485. doi: 10.1155/2020/8562485.
    https://pubmed.ncbi.nlm.nih.gov/32831641/
  • Menashe SJ, Aboughalia H, Zhao Y, Ngo AV, Otjen JP, Thapa MM, Iyer RS.
    The Many Faces of Pediatric Chronic Recurrent Multifocal Osteomyelitis (CRMO): A Practical Location- and Case-Based Approach to Differentiate CRMO From Its Mimics.
    J Magn Reson Imaging. 2020 Aug 25;e27299. doi: 10.1002/jmri.27299.
    https://pubmed.ncbi.nlm.nih.gov/32841445/
  • Perazzio SF, Allenspach EJ, Eklund KK, Varjosalo M, Shinohara MM, Torgerson TR, Seppänen MRJ.
    Behçet disease (BD) and BD-like clinical phenotypes: NF-kB pathway in mucosal ulcerating diseases
    Scand J Immunol. 2020 Sep 5;e12973. doi: 10.1111/sji.12973.
    https://pubmed.ncbi.nlm.nih.gov/32889730/
  • Lopalco G, Rigante D, Lopalco A, Emmi G, Venerito V, Vitale A, Capozio G, Denora N, Cantarini L, Iannone F.
    Safety of systemic treatments for Behçet's syndrome
    Expert Opin Drug Saf. 2020 Sep 4. doi: 10.1080/14740338.2020.1817379.
    https://pubmed.ncbi.nlm.nih.gov/32883123/
  • Umar M, Megarbane A, Shan J, Syed N, Chouery E, Aliyev E, Jithesh P, Temanni R, Mansour I, Chouchane L, Ismail Chouchane A.
    Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling
    J Cell Mol Med. 2020 Aug 27.doi: 10.1111/jcmm.15701.
    https://pubmed.ncbi.nlm.nih.gov/32853466/
  • El Roz A, Ghssein G, Khalaf B, Fardoun T, Ibrahim JN.
    Spectrum of MEFV Variants and Genotypes among Clinically Diagnosed FMF Patients from Southern Lebanon.
    Med Sci (Basel). 2020 Aug 17;8(3):E35. doi: 10.3390/medsci8030035.
    https://pubmed.ncbi.nlm.nih.gov/32824452/
  • Tufan A, Lachmann H.
    Familial mediterranean fever, from pathogenesis to treatment: a contemporary review
    Turk J Med Sci. 2020 Aug 18. doi: 10.3906/sag-2008-11.
    https://pubmed.ncbi.nlm.nih.gov/32806879/
  • Durcan G, Yildiz M, Kadak MT, Barut K, Kavruk Erdim N, Sahin S, Adrovic A, Haslak F, Dogangun B, Kasapcopur O.
    Increased frequency of sleep problems in children and adolescents with familial Mediterranean fever: The role of anxiety and depression.
    Int J Rheum Dis. 2020 Aug 10.doi: 10.1111/1756-185X.13941.
    https://pubmed.ncbi.nlm.nih.gov/32776695/
  • Paim-Marques LB, Cavalcante A, Castro C, Muskardin TLW, de Oliveira JB, Niewold TB, Appenzeller S.
    Novel mutation in the NRLP3 manifesting as an intermediate phenotype of cryopyrinopathies.
    Rheumatol Int.2020 Aug 19. doi: 10.1007/s00296-020-04683-5.
    https://pubmed.ncbi.nlm.nih.gov/32813153/
  • Kendall JL, Springer JM.
    The Many Faces of a Monogenic Autoinflammatory Disease: Adenosine Deaminase 2 Deficiency.
    Curr Rheumatol Rep. 2020 Aug 26;22(10):64. doi: 10.1007/s11926-020-00944-1.
    https://pubmed.ncbi.nlm.nih.gov/32845415/
  • Khubchandani R, Aksentijevich I.
    Deficiency of Adenosine Deaminase 2 (DADA2) - A New Autoinflammatory Disease with Multisystem Features.
    Indian Pediatr. 2020 Aug 14;S097475591600231.
    https://pubmed.ncbi.nlm.nih.gov/32796151/
  • Luo Y, Wu D, Shen M.
    Recurrent fever of unknown origin: An overlooked symptom of Fabry disease
    Mol Genet Genomic Med.2020 Aug 14;e1454. doi: 10.1002/mgg3.1454.
    https://pubmed.ncbi.nlm.nih.gov/32797665/
  • Kim HY, Song JY, Kim WI, Ko HC, Park SE, Jang JH, Kim SH.
    The First Case of an Infant with Familial A20 Haploinsufficiency in Korea
    J Korean Med Sci.2020 Aug 3;35(30):e252. doi: 10.3346/jkms.2020.35.e252.
    https://pubmed.ncbi.nlm.nih.gov/32743991/
  • Okada S, Asano T, Moriya K, Boisson-Dupuis S, Kobayashi M , Casanova JL, Puel A.
    Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy
    J Clin Immunol. 2020 Aug 27.doi: 10.1007/s10875-020-00847-x.
    https://pubmed.ncbi.nlm.nih.gov/32852681/
  • Mendonça LO, Grossi A, Caroli F, de Oliveira RA, Kalil J, Castro FFM, Pontillo A, Ceccherini I, Barros MAMT, Gattorno M.
    A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA)
    Pediatr Rheumatol Online J. 2020 Aug 20;18(1):67. doi: 10.1186/s12969-020-00454-5.
    https://pubmed.ncbi.nlm.nih.gov/32819369/
  • Speir M, Lawlor KE.
    RIP-roaring inflammation: RIPK1 and RIPK3 driven NLRP3 inflammasome activation and autoinflammatory disease.
    Semin Cell Dev Biol. 2020 Aug 5;S1084-9521(19)30233-2. doi:
    10.1016/j.semcdb.2020.07.011.
    https://pubmed.ncbi.nlm.nih.gov/32771377/
 
 
 JULIO 2020

  • Hedrich CM, Morbach H, Reiser C, Girschick HJ.
    New Insights into Adult and Paediatric Chronic Non-bacterial Osteomyelitis CNO.
    Curr Rheumatol Rep. 2020 Jul 23;22(9):52. doi: 10.1007/s11926-020-00928-1.
    https://pubmed.ncbi.nlm.nih.gov/32705386/

  • Ter Haar NM, Jansen MHA, Frenkel JF, Vastert SJ.
    How autoinflammation may turn into autoimmune inflammation: Insights from monogenetic and complex IL-1 mediated auto-inflammatory diseases.
    Clin Immunol. 2020 Jul 15:108538. doi: 10.1016/j.clim.2020.108538. Epub ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/32681980/

  • Lin B, Berard R, Al Rasheed A, Aladba B, Kranzusch PJ, Henderlight M, Grom A, Kahle D, Torreggiani S, Aue AG, Mitchell J, de Jesus AA, Schulert GS, Goldbach-Mansky R.
    A novel STING1 variant causes a recessive form of STING-associated vasculopathy with onset in infancy (SAVI).
    J Allergy Clin Immunol. 2020 Jul 13:S0091-6749(20)30963-5. doi: 10.1016/j.jaci.2020.06.032. Epub ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/32673614/

  • d'Adamo AP, Bianco AM, Ferrara G, La Bianca M, Insalaco A, Tommasini A, Pardeo M, Cattalini M, La Torre F, Finetti M, Alizzi C, Simonini G, Messia V, Pastore S, Cimaz R, Gattorno M, Taddio A; Italian Pediatric Rheumatology Study Group.
    High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO).
    Pediatr Rheumatol Online J. 2020 Jul 10;18(1):55. doi: 10.1186/s12969-020-00447-4.
    https://pubmed.ncbi.nlm.nih.gov/32650789/

  • Matsuda T, Kambe N, Ueki Y, Kanazawa N, Izawa K, Honda Y, Kawakami A, Takei S, Tonomura K, Inoue M, Kobayashi H, Okafuji I, Sakurai Y, Kato N, Maruyama Y, Inoue Y, Otsubo Y, Makino T, Okada S, Kobayashi I, Yashiro M, Ito S, Fujii H, Kondo Y, Okamoto N, Ito S, Iwata N, Kaneko U, Doi M, Hosokawa J, Ohara O, Saito MK, Nishikomori R; PIDJ members in the JSIAD; PIDJ (Primary Immunodeficiency and Autoinflammatory Diseases Database Project) members in the JSIAD (Japanese Society for Immunodeficiency and Autoinflammatory Diseases).
    Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation.
    Ann Rheum Dis. 2020 Jul 9:annrheumdis-2020-217320. doi: 10.1136/annrheumdis-2020-217320. Epub ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/32647028/

  • Martín-Nalda A, Fortuny C, Rey L, Bunney TD, Alsina L, Esteve-Solé A, Bull D, Anton MC, Basagaña M, Casals F, Deyá A, García-Prat M, Gimeno R, Juan M, Martinez-Banaclocha H, Martinez-Garcia JJ, Mensa-Vilaró A, Rabionet R, Martin-Begue N, Rudilla F, Yagüe J, Estivill X, García-Patos V, Pujol RM, Soler-Palacín P, Katan M, Pelegrín P, Colobran R, Vicente A, Arostegui JI.
    Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.
    J Clin Immunol. 2020 Jul 15. doi: 10.1007/s10875-020-00794-7. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/32671674/

  • Andronikou S, Kraft JK, Offiah AC, Jones J, Douis H, Thyagarajan M, Barrera CA, Zouvani A, Ramanan AV.
    Whole-body MRI in the diagnosis of paediatric CNO/CRMO.
    Rheumatology (Oxford). 2020 Jul 10:keaa303. doi: 10.1093/rheumatology/keaa303. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/32648576/

 
JUNIO 2020

  • Çiçek SÖ, Şahin N, Karaman ZF, Taşkın SN, Kısaarslan AP, Gündüz Z, Poyrazoğlu MH, Düşünsel R.
    The Possible Relationship Between Familial Mediterranean Fever and Chronic Nonbacterial Osteomyelitis: Coincidence or Coexistence?
    J Clin Rheumatol. 2020 Jun 12. doi: 10.1097/RHU.0000000000001431.
    https://pubmed.ncbi.nlm.nih.gov/32541616/

  • Balcı-Peynircioğlu B, Kaya-Akça Ü, Arıcı ZS, Avcı E, Akkaya-Ulum ZY, Karadağ Ö, Kalyoncu U, Bilginer Y, Yılmaz E, Özen S.
    Comorbidities in familial Mediterranean fever: analysis of 2000 genetically confirmed patients.
    Rheumatology (Oxford). 2020 Jun 1;59(6):1372-1380. doi: 10.1093/rheumatology/kez410.
    https://pubmed.ncbi.nlm.nih.gov/31598713/

  • Aksentijevich I, Soriano A, Hernández-Rodríguez J.
    Editorial: Autoinflammatory Diseases: From Genes to Bedside.
    Front Immunol. 2020 Jun 19;11:1177. doi: 10.3389/fimmu.2020.01177
    https://pubmed.ncbi.nlm.nih.gov/32636839/

 
MAYO 2020
  • Clarke SLN, Robertson L, Rice GI, Seabra L, Hilliard TN, Crow YJ, Ramanan AV.
    Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype.
    Pediatr Rheumatol Online J. 2020 May 12;18(1):37
    https://doi.org/10.1186/s12969-020-00425-w
  • Batlle-Masó L, Mensa-Vilaró A, Solís-Moruno M, Marquès-Bonet T, Arostegui JI, Casals F.
    Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing.
    Eur J Med Genet. 2020 May;63(5):103920.
    https://doi.org/10.1016/j.ejmg.2020.103920
  • Hirsch MC, Ronicke S, Krusche M, Wagner AD.
    Rare diseases 2030: how augmented AI will support diagnosis and treatment of rare diseases in the future.
    Ann Rheum Dis. 2020 Jun;79(6):740-743.
    https://doi.org/10.1136/annrheumdis-2020-217125
  • Amarilyo G, Rothman D, Manthiram K, Edwards KM, Li SC, Marshall GS, Yildirim-Toruner C, Haines K, Ferguson PJ, Lionetti G, Cherian J, Zhao Y, DeLaMora P, Syverson G, Nativ S, Twilt M, Michelow IC, Stepanovskiy Y, Thatayatikom A, Harel L, Akoghlanian S, Tucker L, Marques MC, Srinivasalu H, Propst EJ, Licameli GR, Dedeoglu F, Lapidus S; CARRA PFAPA Consensus Treatment Plan Workgroup
    Consensus treatment plans for periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome (PFAPA): a framework to evaluate treatment responses from the childhood arthritis and rheumatology research alliance (CARRA) PFAPA work group.
    Pediatr Rheumatol Online J. 2020 Apr 15;18(1):31. doi: 10.1186/s12969-020-00424-x.
    https://pubmed.ncbi.nlm.nih.gov/32293478
  • Ayaz NA, Tanatar A, Karadağ ŞG, Çakan M, Keskindemirci G, Sönmez HE
    Comorbidities and phenotype-genotype correlation in children with familial Mediterranean fever.
    Rheumatol Int. 2020 Apr 28. doi: 10.1007/s00296-020-04592-7. Online ahead of print
    https://pubmed.ncbi.nlm.nih.gov/32347339
  • Van der Houwen T, Van Laar J.
    Behҫet's Disease, and the Role of TNF-α and TNF-α Blockers.
    Int J Mol Sci. 2020 Apr 27;21(9):E3072. doi: 10.3390/ijms21093072.
    https://pubmed.ncbi.nlm.nih.gov/32349254
  • Yıldız M, Haşlak F, Adrovic A, Barut K, Kasapçopur Ö.
    Autoinflammatory Diseases in Childhood.
    Balkan Med J. 2020 Apr 27. doi: 10.4274/balkanmedj.galenos.2020.2020.4.82. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/32338845
  • Conte M, Pastore S, Berti I, Taddio A, Tommasini A.
    Cutaneous manifestations in mevalonate kinase deficient patients treated with canakinumab.
    Clin Exp Rheumatol. 2020 Apr 23. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/32324125
  • Kuemmerle-Deschner JB, Welzel T, Hoertnagel K, Tsiflikas I, Hospach A, Liu X, Schlipf S, Hansmann S, Samba SD, Griesinger A, Benseler SM, Weber AN.
    New variant in the IL1RN-gene (DIRA) associated with late-onset, CRMO-like presentation.
    Rheumatology (Oxford). 2020 Apr 7:keaa119. doi: 10.1093/rheumatology/keaa119. Online ahead of print
    https://pubmed.ncbi.nlm.nih.gov/32259833
  • Meinzer U, See H, Bader-Meunier B, Juillard C, Duquesne A, Melki I, Faye A, Bourrat E; Groupe de recherche de la Société Française de Dermatologie Pédiatrique; Société Francophone pour la rhumatologie et les Maladies Inflammatoires en Pédiatrie (SOFREMIP).
    Clinical characteristics of pediatric patients with acne fulminans associated to chronic non-bacterial osteomyelitis.
    J Rheumatol. 2020 Apr 1:jrheum.191232. doi: 10.3899/jrheum.191232. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/32238518
  • Kadowaki T, Ohnishi H, Kawamoto N, Kadowaki S, Hori T, Nishimura K, Kobayashi C, Shigemura T, Ogata S, Inoue Y, Hiejima E, Izawa K, Matsubayashi T, Matsumoto K, Imai K, Nishikomori R, Ito S, Kanegane H, Fukao T.
    Immunophenotyping of A20 haploinsufficiency by multicolor flow cytometry
    Clin Immunol. 2020 Apr 23;216:108441. doi: 10.1016/j.clim.2020.108441. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/32335289
  • Schulert GS, Cron RQ.
    The genetics of macrophage activation syndrome.
    Genes Immun. 2020 Apr 15. doi: 10.1038/s41435-020-0098-4. Online ahead of print.
    https://pubmed.ncbi.nlm.nih.gov/32291394
 
MARZO 2020
  • Bonnekoh H, Butze M, Kallinich T, Kambe N, Kokolakis G, Krause K
    Spectrum of Genetic Autoinflammatory Diseases Presenting with Cutaneous Symptoms.
    Acta Derm Venereol. 2020 Mar 9. doi: 10.2340/00015555-3427. [Epub ahead of print]
    https://www.ncbi.nlm.nih.gov/pubmed/32147748
  • Shinar Y, Ceccherini I, Rowczenio D, Aksentijevich I, Arostegui J, Ben-Chétrit E, Boursier G, Gattorno M, Hayrapetyan H, Ida H, Kanazawa N, Lachmann HJ, Mensa-Vilaro A, Nishikomori R, Oberkanins C, Obici L, Ohara O, Ozen S, Sarkisian T, Sheils K, Wolstenholme N, Zonneveld-Huijssoon E, van Gijn ME, Touitou I.
    ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
    Clin Chem. 2020 Mar 16. pii: hvaa024. doi: 10.1093/clinchem/hvaa024. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/32176780
  • Kacar M, Savic S, van der Hilst JCH.
    The Efficacy, Safety and Tolerability of Canakinumab in the Treatment of Familial Mediterranean Fever: A Systematic Review of the Literature.
    J Inflamm Res. 2020 Mar 9;13:141-149.
    https://www.ncbi.nlm.nih.gov/pubmed/32210604
  • Fraisse T, Savey L, Hentgen V, Rossi-Semerano L, Koné-Paut I, Grateau G, Georgin-Lavialle S, Ducharme-Bénard S.
    Non-amyloid liver involvement in familial Mediterranean fever: a systematic literature review.
    Liver Int. 2020 Mar 20. doi: 10.1111/liv.14445. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/32196885
  • Miyamae T, Hanaya A, Kawamoto M, Tani Y, Kawaguchi Y, Yamanaka H.
    Diagnostic Rate of Autoinflammatory Diseases Evaluated by Fever Patterns in Pediatric- and Adult-Onset Patients.
    J Clin Rheumatol. 2020 Mar;26(2):60-62.
    https://www.ncbi.nlm.nih.gov/pubmed/32073516
  • Schwob E, Bessis D, Boursier G, Kottler D, Guillot B, Lerisson M, Girard C.
    PASS: A rare syndrome within the autoinflammatory diseases that still lacks a genetic marker.
    J Eur Acad Dermatol Venereol. 2020 Mar 25. doi: 10.1111/jdv.16385. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/32215958
  • Navallas M, Inarejos Clemente EJ, Iglesias E, Rebollo-Polo M, Zaki FM, Navarro OM.
    Autoinflammatory diseases in childhood, part 1: monogenic syndromes.
    Pediatr Radiol. 2020 Mar;50(3):415-430.
    https://www.ncbi.nlm.nih.gov/pubmed/32065272
  • Navallas M, Inarejos Clemente EJ, Iglesias E, Rebollo-Polo M, Hernández JC, Navarro OM.
    Autoinflammatory diseases in childhood, part 2: polygenic syndromes.
    Pediatr Radiol. 2020 Mar;50(3):431-444.
    https://www.ncbi.nlm.nih.gov/pubmed/32065273
  • Asan G, Derin ME, Doğan HO, Bayram M, Şahin M, Şahin A.
    Can Calprotectin Show Subclinical Inflammation in Familial Mediterranean Fever Patients?J Korean Med Sci. 2020 Mar 16;35(10):e63.
    https://www.ncbi.nlm.nih.gov/pubmed/32174062Timme M, Bohner L, Huss S, Kleinheinz J, Hanisch M.
    Response of Different Treatment Protocols to Treat Chronic Non-Bacterial Osteomyelitis (CNO) of the Mandible in Adult Patients: A Systematic Review.Int J Environ Res Public Health. 2020 Mar 6;17(5). pii: E1737. doi: 10.3390/ijerph17051737.
    https://www.ncbi.nlm.nih.gov/pubmed/32155902
  • Shinkarevsky Fleitman I, Nevo Y, Harel L, Amarilyo G, Dori A, Agmon-Levin N, Kachko L, Zaks Hoffer G, Dabby R, Rabie M, Aharoni S.
    Small-fiber neuropathy associated with autoinflammatory syndromes in children and adolescents.
    Muscle Nerve. 2020 Mar 4. doi: 10.1002/mus.26857. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/32133669
  • Bonnekoh H, Butze M, Kallinich T, Kambe N, Kokolakis G, Krause K
    Spectrum of Genetic Autoinflammatory Diseases Presenting with Cutaneous Symptoms.
    Acta Derm Venereol. 2020 Mar 9. doi: 10.2340/00015555-3427. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/32147748
  • Shinar Y, Ceccherini I, Rowczenio D, Aksentijevich I, Arostegui J, Ben-Chétrit E, Boursier G, Gattorno M, Hayrapetyan H, Ida H, Kanazawa N, Lachmann HJ, Mensa-Vilaro A, Nishikomori R, Oberkanins C, Obici L, Ohara O, Ozen S, Sarkisian T, Sheils K, Wolstenholme N, Zonneveld-Huijssoon E, van Gijn ME, Touitou I.
    ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
    Clin Chem. 2020 Mar 16. pii: hvaa024. doi: 10.1093/clinchem/hvaa024. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/32176780
  • Kacar M, Savic S, van der Hilst JCH.
    The Efficacy, Safety and Tolerability of Canakinumab in the Treatment of Familial Mediterranean Fever: A Systematic Review of the Literature.
    J Inflamm Res. 2020 Mar 9;13:141-149.
    https://www.ncbi.nlm.nih.gov/pubmed/32210604
  • Fraisse T, Savey L, Hentgen V, Rossi-Semerano L, Koné-Paut I, Grateau G, Georgin-Lavialle S, Ducharme-Bénard S.
    Non-amyloid liver involvement in familial Mediterranean fever: a systematic literature review.
    Liver Int. 2020 Mar 20. doi: 10.1111/liv.14445. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/32196885
  • Miyamae T, Hanaya A, Kawamoto M, Tani Y, Kawaguchi Y, Yamanaka H.
    Diagnostic Rate of Autoinflammatory Diseases Evaluated by Fever Patterns in Pediatric- and Adult-Onset Patients.
    J Clin Rheumatol. 2020 Mar;26(2):60-62.
    https://www.ncbi.nlm.nih.gov/pubmed/32073516
  • Schwob E, Bessis D, Boursier G, Kottler D, Guillot B, Lerisson M, Girard C.
    PASS: A rare syndrome within the autoinflammatory diseases that still lacks a genetic marker.
    J Eur Acad Dermatol Venereol. 2020 Mar 25. doi: 10.1111/jdv.16385. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/32215958
  • Navallas M, Inarejos Clemente EJ, Iglesias E, Rebollo-Polo M, Zaki FM, Navarro OM.
    Autoinflammatory diseases in childhood, part 1: monogenic syndromes.
    Pediatr Radiol. 2020 Mar;50(3):415-430.
    https://www.ncbi.nlm.nih.gov/pubmed/32065272
  • Navallas M, Inarejos Clemente EJ, Iglesias E, Rebollo-Polo M, Hernández JC, Navarro OM.
    Autoinflammatory diseases in childhood, part 2: polygenic syndromes.
    Pediatr Radiol. 2020 Mar;50(3):431-444.
    https://www.ncbi.nlm.nih.gov/pubmed/32065273
  • Asan G, Derin ME, Doğan HO, Bayram M, Şahin M, Şahin A.
    Can Calprotectin Show Subclinical Inflammation in Familial Mediterranean Fever Patients?J
    Korean Med Sci. 2020 Mar 16;35(10):e63.
    https://www.ncbi.nlm.nih.gov/pubmed/32174062
  • Timme M, Bohner L, Huss S, Kleinheinz J, Hanisch M.
    Response of Different Treatment Protocols to Treat Chronic Non-Bacterial Osteomyelitis (CNO) of the Mandible in Adult Patients: A Systematic Review.
    Int J Environ Res Public Health. 2020 Mar 6;17(5). pii: E1737. doi: 10.3390/ijerph17051737. 
    https://www.ncbi.nlm.nih.gov/pubmed/32155902
  • Shinkarevsky Fleitman I, Nevo Y, Harel L, Amarilyo G, Dori A, Agmon-Levin N, Kachko L, Zaks Hoffer G, Dabby R, Rabie M, Aharoni S.
    Small-fiber neuropathy associated with autoinflammatory syndromes in children and adolescents.
    Muscle Nerve. 2020 Mar 4. doi: 10.1002/mus.26857. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/32133669
  • Navallas M, Inarejos Clemente EJ, Iglesias E, Rebollo-Polo M, Zaki FM, Navarro OM.
    Autoinflammatory diseases in childhood, part 1: monogenic syndromes.
    Pediatr Radiol. 2020 Mar;50(3):415-430. doi: 10.1007/s00247-019-04536-9. Epub 2020 Feb 17.
    https://www.ncbi.nlm.nih.gov/pubmed/32065272
  • Navallas M, Inarejos Clemente EJ, Iglesias E, Rebollo-Polo M, Hernández JC, Navarro OM.
    Autoinflammatory diseases in childhood, part 2: polygenic syndromes.
    Pediatr Radiol. 2020 Mar;50(3):431-444. doi: 10.1007/s00247-019-04544-9. Epub 2020 Feb 17.
    https://www.ncbi.nlm.nih.gov/pubmed/32065273
  • Miyamae T, Hanaya A, Kawamoto M, Tani Y, Kawaguchi Y, Yamanaka H.
    Diagnostic Rate of Autoinflammatory Diseases Evaluated by Fever Patterns in Pediatric- and Adult-Onset Patients.
    J Clin Rheumatol. 2020 Mar;26(2):60-62. doi: 10.1097/RHU.0000000000000929.
    https://www.ncbi.nlm.nih.gov/pubmed/32073516
  • Hansmann S, Lainka E, Horneff G, Holzinger D, Rieber N, Jansson AF, Rösen-Wolff A, Erbis G, Prelog M, Brunner J, Benseler SM, Kuemmerle-Deschner JB.
    Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative.
    Pediatr Rheumatol Online J. 2020 Feb 17;18(1):17. doi: 10.1186/s12969-020-0409-3.
    https://www.ncbi.nlm.nih.gov/pubmed/32066461
  • Stolberg NG, Verbsky JW.
    Autoinflammatory Disorders with Perinatal Onset.
    Clin Perinatol. 2020 Mar;47(1):41-52. doi: 10.1016/j.clp.2019.10.007. Epub 2019 Oct 21.
    https://www.ncbi.nlm.nih.gov/pubmed/32000928
 
FEBRERO 2020
  • Krainer J, Siebenhandl S, Weinhäusel A.
    Systemic autoinflammatory diseases.
    J Autoimmun. 2020 Feb 1:102421. doi: 10.1016/j.jaut.2020.102421.
    https://www.ncbi.nlm.nih.gov/pubmed/32019685
  • Sota J, Rigante D, Emmi G, Lopalco G, Orlando I, Tosi GM, Frediani B, Vitale A, Guerriero S, Iannone F, Vannozzi L, Fabiani C, Cantarini L.
    Behçet's syndrome in Italy: a detailed retrospective analysis of 396 cases seen in 3 tertiary referral clinics.
    Intern Emerg Med. 2020 Feb 1. doi: 10.1007/s11739-019-02248-4.
    https://www.ncbi.nlm.nih.gov/pubmed/32006221
 
ENERO 2020
      • Özen S, Batu ED, Taşkıran EZ, Özkara HA, Ünal Ş, Güleray N, Erden A, Karadağ Ö, Gümrük F, Çetin M, Sönmez HE, Bilginer Y, Ayvaz DÇ, Tezcan I.
        A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2.
        J Rheumatol. 2020 Jan;47(1):117-125. doi: 10.3899/jrheum.181384. Epub 2019 May 1.
        https://www.ncbi.nlm.nih.gov/pubmed/31043544
      • Hautala T, Vähäsalo P, Kuismin O, Keskitalo S, Rajamäki K, Väänänen A, Simojoki M, Säily M, Pelkonen I, Tokola H, Mäkinen M, Kaarteenaho R, Jartti A, Hautala N, Kantola S, Jackson P, Glumoff V, Saarela J, Varjosalo M, Eklund KK, Seppänen MRJ.
        A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment.
        J Clin Rheumatol. 2020 Jan 21. doi: 10.1097/RHU.0000000000001268. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/31977656
      • Sato TS, Watal P, Ferguson PJ.
        Imaging mimics of chronic recurrent multifocal osteomyelitis: avoiding pitfalls in a diagnosis of exclusion.
        Pediatr Radiol. 2020 Jan;50(1):124-136. doi: 10.1007/s00247-019-04510-5. Epub 2020 Jan 4.
        https://www.ncbi.nlm.nih.gov/pubmed/31901992
      • Gaal A, Basiaga ML, Zhao Y, Egbert M.
        Pediatric chronic nonbacterial osteomyelitis of the mandible: Seattle Children's hospital 22-patient experience.
        Pediatr Rheumatol Online J. 2020 Jan 15;18(1):4. doi: 10.1186/s12969-019-0384-8.
        https://www.ncbi.nlm.nih.gov/pubmed/31941491
      • Ferrara G, Insalaco A, Pardeo M, Cattalini M, La Torre F, Finetti M, Ricci F, Alizzi C, Teruzzi B, Simonini G, Messia V, Pastore S, Morra L, Cimaz R, Gattorno M, Taddio A; Italian Paediatric Rheumatology Study Group.
        Prevalence of cranial involvement in a cohort of Italian patients with chronic non-bacterial osteomyelitis.
        Clin Exp Rheumatol. 2020 Jan 29. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/31994478
      • Kostik MM, Kopchak OL, Maletin AS, Mushkin AY.
        The peculiarities and treatment outcomes of the spinal form of chronic non-bacterial osteomyelitisin children: a retrospective cohort study.
        Rheumatol Int. 2020 Jan;40(1):97-105. doi: 10.1007/s00296-019-04479-2. Epub 2019 Nov 21.
        https://www.ncbi.nlm.nih.gov/pubmed/31754777
      • Vampertzi O, Papadopoulou-Legbelou K, Triantafyllou A, Douma S, Papadopoulou-Alataki E.
        Familial Mediterranean fever and atherosclerosis in childhood and adolescence.
        Rheumatol Int. 2020 Jan;40(1):1-8. doi: 10.1007/s00296-019-04457-8. Epub 2019 Nov 8.
        https://www.ncbi.nlm.nih.gov/pubmed/31705200
      • Tao P, Sun J, Wu Z, Wang S, Wang J, Li W, Pan H, Bai R, Zhang J, Wang Y, Lee PY, Ying W, Zhou Q, Hou J, Wang W, Sun B, Yang M, Liu D, Fang R, Han H, Yang Z, Huang X, Li H, Deuitch N, Zhang Y, Dissanayake D, Haude K, McWalter K, Roadhouse C, MacKenzie JJ, Laxer RM, Aksentijevich I, Yu X, Wang X, Yuan J, Zhou Q.
        A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1.
        Nature. 2020 Jan;577(7788):109-114. doi: 10.1038/s41586-019-1830-y. Epub 2019 Dec 11.
        https://www.ncbi.nlm.nih.gov/pubmed/31827280
 
DICIEMBRE 2019
      • de Jesus AA, Hou Y, Brooks S, Malle L, Biancotto A, Huang Y, Calvo KR, Marrero B, Moir S, Oler AJ, Deng Z, Montealegre Sanchez GA, Ahmed A, Allenspach E, Arabshahi B, Behrens E, Benseler S, Bezrodnik L, Bout-Tabaku S, Brescia AC, Brown D, Burnham JM, Caldirola MS, Carrasco R, Chan AY, Cimaz R, Dancey P, Dare J, DeGuzman M, Dimitriades V, Ferguson I, Ferguson P, Finn L, Gattorno M, Grom AA, Hanson EP, Hashkes PJ, Hedrich CM, Herzog R, Horneff G, Jerath R, Kessler E, Kim H, Kingsbury DJ, Laxer RM, Lee PY, Lee-Kirsch MA, Lewandowski L, Li S, Lilleby V, Mammadova V, Moorthy LN, Nasrullayeva G, O'Neil KM, Onel K, Ozen S, Pan N, Pillet P, Piotto DG, Punaro MG, Reiff A, Reinhardt A, Rider LG, Rivas-Chacon R, Ronis T, Rösen-Wolff A, Roth J, Ruth NM, Rygg M, Schmeling H, Schulert G, Scott C, Seminario G, Shulman A, Sivaraman V, Son MB, Stepanovskyy Y, Stringer E, Taber S, Terreri MT, Tifft C, Torgerson T, Tosi L, Van Royen-Kerkhof A, Wampler Muskardin T, Canna SW, Goldbach-Mansky R.
        Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.
        J Clin Invest. 2019 Dec 24. pii: 129301. doi: 10.1172/JCI129301 https://www.ncbi.nlm.nih.gov/pubmed/31874111
      • Standing AS, Hong Y, Paisan-Ruiz C, Omoyinmi E, Medlar A, Stanescu H, Kleta R, Rowcenzio D, Hawkins P, Lachmann H, McDermott MF, Eleftheriou D, Klein N, Brogan PA.
        TRAP1 chaperone protein mutations and autoinflammation.
        Life Sci Alliance. 2019 Dec 27;3(2). pii: e201900376. doi: 10.26508/lsa.201900376. https://www.ncbi.nlm.nih.gov/pubmed/31882397
      • Gupta A, Tripathy SK, Phulware RH, Arava S, Bagri NK.
        Cryopyrin-associated periodic fever syndrome in children: A case-based review.
        Int J Rheum Dis. 2019 Dec 19. doi: 10.1111/1756-185X.13772 https://www.ncbi.nlm.nih.gov/pubmed/31858722
      • Wang W, Zhou Y, Zhong LQ, Li Z, Jian S, Tang XY, Song HM.
        The clinical phenotype and genotype of NLRP12-autoinflammatory disease: a Chinese case series with literature review.
        World J Pediatr. 2019 Dec 9. doi: 10.1007/s12519-019-00294-8. https://www.ncbi.nlm.nih.gov/pubmed/31820221
 
OCTUBRE 2019
      •  Emine Sonmez H, Karaaslan C, de Jesus AA, Deniz Batu E, Anlar B, Sözeri B, Bilginer Y, Karaguzel D, Cagdas Ayvaz D, Tezcan I, Goldbach-Mansky R, Ozen S.
        A clinical score to guide in decision making for monogenic type I IFNopathies
        Pediatr Res. 2019 Oct 22. doi: 10.1038/s41390-019-0614-2. [Epub ahead of print] https://www.ncbi.nlm.nih.gov/pubmed/31641281
      • Balcı-Peynircioğlu B, Kaya-Akça Ü, Arıcı ZS, Avcı E, Akkaya-Ulum ZY, Karadağ Ö, Kalyoncu U, Bilginer Y, Yılmaz E, Özen S.
        Comorbidities in familial Mediterranean fever: analysis of 2000 genetically confirmed patients
        Rheumatology (Oxford). 2019 Oct 10. pii: kez410. doi: 10.1093/rheumatology/kez410. [Epub ahead of print] https://www.ncbi.nlm.nih.gov/pubmed/31598713
      • Yu MP, Xu XS, Zhou Q, Deuitch N, Lu MP.
        Haploinsufficiency of A20 (HA20): updates on the genetics, phenotype, pathogenesis and treatment
        World J Pediatr. 2019 Oct 5. doi: 10.1007/s12519-019-00288-6. [Epub ahead of print] Review.
        https://www.ncbi.nlm.nih.gov/pubmed/31587140
      • Balci S, Ekinci RMK, de Jesus AA, Goldbach-Mansky R, Yilmaz M.
        Baricitinib experience on STING-associated vasculopathy with onset in infancy: A representative case from Turkey
        Clin Immunol. 2019 Oct 15:108273. doi: 10.1016/j.clim.2019.108273. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/31626957
      • Tanatar A, Sönmez HE, Karadağ ŞG, Çakmak F, Çakan M, Demir F, Sözeri B, Ayaz NA.
        Performance of Tel-Hashomer, Livneh, pediatric and new Eurofever/PRINTO classification criteria for familial Mediterranean fever in a referral center
        Rheumatol Int. 2019 Oct 23. doi: 10.1007/s00296-019-04463-w. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/31646357
      • Lam MT, Coppola S, Krumbach OHF, Prencipe G, Insalaco A, Cifaldi C, et al.
        A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
        J Exp Med. 2019 Oct 10. pii: jem.20190147. doi: 10.1084/jem.20190147. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/31601675
      • Zhao Y, Sato TS, Nielsen SM, Beer M, Huang M, Iyer RS, McGuire M, Ngo AV, Otjen JP, Panwar J, Stimec J, Thapa M, Toma P, Taneja A, Gove NE, Ferguson PJ.
        Development of CROMRIS (ChRonic nonbacterial Osteomyelitis MRI Scoring) Tool and Evaluation of its Interrater Reliability.
        J Rheumatol. 2019 Oct 1. pii: jrheum.190186. doi: 10.3899/jrheum.190186. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/31575701
      • Goenka A, Roderick M, Finn A, Ramanan AV.
        The jigsaw puzzle of chronic non-bacterial osteomyelitis: are anti-IL17 therapies the next piece?
        Rheumatology (Oxford). 2019 Oct 19. pii: kez492. doi: 10.1093/rheumatology/kez492. [Epub ahead of print]

        https://www.ncbi.nlm.nih.gov/pubmed/31630190
      • Boursier G, Rittore C, Georgin-Lavialle S, Belot A, Galeotti C, Hachulla E, Hentgen V, Rossi-Semerano L, Sarrabay G, Touitou AI.
        Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases
        J Clin Med. 2019 Oct 18;8(10). pii: E1729. doi: 10.3390/jcm8101729.
        https://www.ncbi.nlm.nih.gov/pubmed/31635385
      • Imazio M, Andreis A, De Ferrari GM, Cremer PC, Mardigyan V, Maestroni S, et al.
        Anakinra for corticosteroid-dependent and colchicine-resistant pericarditis: The IRAP (International Registry of Anakinra for Pericarditis) study
        Eur J Prev Cardiol. 2019 Oct 15:2047487319879534. doi: 10.1177/2047487319879534. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/31610707
      • Tartey S, Kanneganti TD.
        Inflammasomes in the pathophysiology of autoinflammatory syndromes
        J Leukoc Biol. 2019 Oct 14. doi: 10.1002/JLB.3MIR0919-191R. [Epub ahead of print] Review.
        https://www.ncbi.nlm.nih.gov/pubmed/31608507
 
SEPTIEMBRE 2019
      • Nezos A, Argyropoulou OD, Klinaki E, Marketos N, Karagianni P, Eliopoulos E, Vlachoyiannopoulos P, Maritsi DN, Tzioufas AG.
        Molecular and clinical spectrum of four pedigrees of TRAPS in Greece: results from a national referral center.
        Rheumatology (Oxford). 2019 Sep 27. pii: kez424. doi: 10.1093/rheumatology/kez424. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/31562507
      • Poline J, Fogel O, Pajot C, Miceli-Richard C, Rybojad M, Galeotti C, Grouteau E, Hachulla E, Brissaud P, Cantagrel A, Mazereeuw Hautier J, Melki I, Petit A, Piram M, Sarrabay G, Wouters C, Vignon-Pennamen MD, Bourrat E, Meinzer U; French Society for Rheumatology and Inflammatory Diseases (SOFREMIP) and the Research Group of Pediatric Dermatology French Society (GRSFDP).
        Early onset granulomatous arthritis, uveitis and skin rash: characterisation of skin involvement in Blau syndrome.
        J Eur Acad Dermatol Venereol. 2019 Sep 21. doi: 10.1111/jdv.15963. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/31541486
      • Alippe Y, Mbalaviele G.
        Omnipresence of inflammasome activities in inflammatory bone diseases.
        Semin Immunopathol. 2019 Sep 13. doi: 10.1007/s00281-019-00753-4. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/31524322
      • Çakan M, Aktay Ayaz N, Keskindemirci G, Karadağ ŞG, Tanatar A, Sönmez HE.
        Serum amyloid A as a biomarker in differentiating attacks of familial Mediterranean fever from acute febrile infections.
        Clin Rheumatol. 2019 Sep 4. doi: 10.1007/s10067-019-04765-1. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/31485845
      • Tezcan ME.
        IL-1 blockers together with colchicine may be administered as first line therapy in familial Mediterranean fever with amyloidosis.
        Med Hypotheses. 2019 Sep;130:109269. doi: 10.1016/j.mehy.2019.109269.
        https://www.ncbi.nlm.nih.gov/pubmed/31383341
 
AGOSTO 2019
      • Young S, Sharma N, Lee JH, Chitu V, Neumeister V, Sohr E, Stanley ER, Hedrich CM, Craig AWB.
        Mast cells enhance sterile inflammation in chronic nonbacterial osteomyelitis.
        Dis Model Mech. 2019 Aug 5. pii: dmm.040097. doi: 10.1242/dmm.040097.
        https://www.ncbi.nlm.nih.gov/pubmed/31416928
      • Tsuji S, Matsuzaki H, Iseki M, Nagasu A, Hirano H, Ishihara K, Ueda N, Honda Y, Horiuchi T, Nishikomori R, Morita Y, Mukai T.
        Functional analysis of a novel G87V TNFRSF1A mutation in patients with TNF receptor-associated periodic syndrome.
        Clin Exp Immunol. 2019 Aug 19. doi: 10.1111/cei.13365.
        https://www.ncbi.nlm.nih.gov/pubmed/31429073
      • Lopalco G, Venerito V, Leccese P, Emmi G, Cantarini L, Lascaro N, Di Scala G, Fabiani C, Rigante D, Iannone F.
        Real-world effectiveness of apremilast in multirefractory mucosal involvement of Behçet's disease.
        Ann Rheum Dis. 2019 Aug 10. pii: annrheumdis-2019-215437. doi: 10.1136/annrheumdis-2019-215437.
        https://www.ncbi.nlm.nih.gov/pubmed/31401548
      • Yu ZX, Song HM.
        Toward a better understanding of type I interferonopathies: a brief summary, update and beyond.
        World J Pediatr. 2019 Aug 3. doi: 10.1007/s12519-019-00273-z.
        https://www.ncbi.nlm.nih.gov/pubmed/31377974
      • Concha S, Hernández-Ojeda A, Contreras O, Mendez C, Talesnik E, Borzutzky A.
        Chronic nonbacterial osteomyelitis in children: a multicenter case series.
        Rheumatol Int. 2019 Aug 2. doi: 10.1007/s00296-019-04400-x.
        https://www.ncbi.nlm.nih.gov/pubmed/31375886
      • Deza G, Mensa-Vilaró A, March-Rodriguez A, Sánchez S, Pujol RM, Aróstegui JI, Giménez-Arnau AM.
        Acquired Cold Urticaria vs. Autoinflammatory Diseases, Genetic and Clinical Profile and Differential Diagnosis: Study of a Cohort of Patients in a Tertiary Reference Centre.
        Acta Derm Venereol. 2019 Aug 13. doi: 10.2340/00015555-3292.
        https://www.ncbi.nlm.nih.gov/pubmed/31408184
      • Aksentijevich I, Sampaio Moura N, Barron K.
        Adenosine Deaminase 2 Deficiency.
        In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. 2019 Aug 8.
        https://www.ncbi.nlm.nih.gov/pubmed/31393689
      • Rowczenio DM, Youngstein T, Trojer H, Omoyinmi E, Baginska A, Brogan P, Papadopoulou C, Rezk T, Hawkins PN, Lachmann HJ.
        British kindred with dominant FMF associated with high incidence of AA amyloidosis caused by novel MEFV variant, and a review of the literature.
        Rheumatology (Oxford). 2019 Aug 5. pii: kez334. doi: 10.1093/rheumatology/kez334.
        https://www.ncbi.nlm.nih.gov/pubmed/31384939
      • Renko M, Lantto U, Tapiainen T.
        Towards better diagnostic criteria for periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome.
        Acta Paediatr. 2019 Aug;108(8):1385-1392. 
        https://www.ncbi.nlm.nih.gov/pubmed/30901126
      • Accetturo M, D'Uggento AM, Portincasa P, Stella A.
        Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever.
        Rheumatology (Oxford). 2019 Aug 14.
        https://www.ncbi.nlm.nih.gov/pubmed/31411330
      • Atas N, Armagan B, Bodakci E, Satis H, Sari A, Bilge NSY, Salman RB, Yardımcı GK, Babaoglu H, Guler AA, Karadeniz H, Kilic L, Ozturk MA, Goker B, Haznedaroglu S, Kalyoncu U, Kasifoglu T, Tufan A.
        Familial Mediterranean fever is associated with a wide spectrum of inflammatory disorders: results from a large cohort study.
        Rheumatol Int. 2019 Aug 7. doi: 10.1007/s00296-019-04412-7. 
        https://www.ncbi.nlm.nih.gov/pubmed/31392498
 
JULIO 2019
      •  Li GM, Liu HM, Guan WZ, Xu H, Wu BB, Sun L.
        Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report.
        BMC Med Genet. 2019 Jul 12;20(1):124.
        https://www.ncbi.nlm.nih.gov/pubmed/31299923
      • Papa R, Rusmini M, Volpi S, Caorsi R, Picco P, Grossi A, Caroli F, Bovis F, Musso V, Obici L, Castana C, Ravelli A, Van Gijn ME, Ceccherini I, Gattorno M.
        Next generation sequencing panel in undifferentiated autoinflammatory diseases identify patients with colchicine-responder recurrent fevers.
        Rheumatology (Oxford). 2019 Jul 19. pii: kez270. doi: 10.1093/rheumatology/kez270. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/31325311
      • Ter Haar NM, Eijkelboom C, Cantarini L, Papa R, Brogan PA, Kone-Paut I,
        Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatorydiseases.
        Ann Rheum Dis. 2019 Jul 5. pii: annrheumdis-2018-214472. doi: 10.1136/annrheumdis-2018-214472. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/31278138
      • Shin JI, Lee KH, Joo YH, Lee JM, Jeon J, Jung HJ et al.
        Inflammasomes and autoimmune and rheumatic diseases: A comprehensive review.
        J Autoimmun. 2019 Jul 17:102299. doi: 10.1016/j.jaut.2019.06.010. [Epub ahead of] https://www.ncbi.nlm.nih.gov/pubmed/31326231
      • Papadopoulou C, Omoyinmi E, Standing A, Pain CE, Booth C, D'Arco F et al.
        Monogenic mimics of Behçet's disease in the young.
        Rheumatology (Oxford). 2019 Jul 1;58(7):1227-1238.
        https://www.ncbi.nlm.nih.gov/pubmed/30715505
      • Demir S, Sag E, Kaya Akca U, Hazirolan T, Bilginer Y, Ozen S.
        The Challenge of Treating Pulmonary Vasculitis in Behçet Disease: Two Pediatric Cases.
        Pediatrics. 2019 Jul 18. pii: e20190162. doi: 10.1542/peds.2019-0162. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/31320468
      • Yildiz M, Adrovic A, Tasdemir E, Baba-Zada K, Aydin M, Koker O et al.
        Evaluation of co-existing diseases in children with familial Mediterranean fever.
        Rheumatol Int. 2019 Jul 27. doi: 10.1007/s00296-019-04391-9. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/31352561
      • Signa S, Campione E, Rusmini M, Chiesa S, Grossi A, Omenetti A, et al.
        Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumab.
        Pediatr Rheumatol Online J. 2019 Jul 8;17(1):37.
        https://www.ncbi.nlm.nih.gov/pubmed/31286971
      • Hospach T, Glowatzki F, Blankenburg F, Conzelmann D, Stirnkorb C, Müllerschön CS, von den Driesch P, Köhler LM, Rohlfs M, Klein C, Hauck F.
        Scoping review of biological treatment of deficiency of interleukin-36 receptor antagonist (DITRA) in children and adolescents.
        Pediatr Rheumatol Online J. 2019 Jul 8;17(1):37.
        https://www.ncbi.nlm.nih.gov/pubmed/31286990
      • Gernez Y, de Jesus AA, Alsaleem H, Macaubas C, Roy A, Lovell D, et al.
        Severe autoinflammation in four patients with C-terminal variants in CDC42 successfully treated with IL-1β inhibition.
        J Allergy Clin Immunol. 2019 Jul 1. pii: S0091-6749(19)30830-9. doi: 10.1016/j.jaci.2019.06.017. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/31271789
      • Elmi AA, Wynne K, Cheng IL, Eleftheriou D, Lachmann HJ, Hawkins PN, Brogan P.
        Retrospective case series describing the efficacy, safety and cost-effectiveness of a vial-sharing programme for canakinumab treatment for paediatric patients with cryopyrin-associated periodic syndrome.
        Pediatr Rheumatol Online J. 2019 Jul 8;17(1):36. 
        https://www.ncbi.nlm.nih.gov/pubmed/31287007
      • Julia N, Katharina R, Hermann G, Annette HW, Henner M, Helge H, Christine H.
        Physical activity and health-related quality of life in chronic non-bacterial osteomyelitis.
        Pediatr Rheumatol Online J. 2019 Jul 18;17(1):45.
        https://www.ncbi.nlm.nih.gov/pubmed/31319856
      • Surace AEA, Hedrich CM.
        The Role of Epigenetics in Autoimmune/Inflammatory Disease.
        Front Immunol. 2019 Jul 4;10:1525.
        https://www.ncbi.nlm.nih.gov/pubmed/31333659
 
JUNIO 2019
      • Rowczenio D, Shinar Y, Ceccherini I, Sheils K, Van Gijn M, Patton SJ, Touitou I.
        Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey.
        Eur J Hum Genet. 2019 Jun 11. doi: 10.1038/s41431-019-0439-9. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/31186541
      • Gellrich FF, Günther C.
        Schnitzler syndrome.
        Hautarzt. 2019 Jun 5. doi: 10.1007/s00105-019-4434-4. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/31165908
      • Brogan PA, Hofer M, Kuemmerle-Deschner JB, Koné-Paut I, Roesler J, Kallinich T, Horneff G, Calvo Penadés I, Sevilla-Perez B, Goffin L, Lauwerys BR, Lachmann HJ, Uziel Y, Wei X, Laxer RM.
        Canakinumab provides rapid and sustained long-term efficacy and safety in patients with cryopyrin-associated periodic syndrome aged ≤5 years.
        Arthritis Rheumatol. 2019 Jun 4. doi: 10.1002/art.41004. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/31161734
 
ABRIL 2019
      • Bettiol A, Lopalco G, Emmi G, Cantarini L, Urban ML, Vitale A, Denora N, Lopalco A, Cutrignelli A, Lopedota A, Venerito V, Fornaro M, Vannacci A, Rigante D, Cimaz R, Iannone F.
        Unveiling the Efficacy, Safety, and Tolerability of Anti-Interleukin-1 Treatment in Monogenic and Multifactorial Autoinflammatory Diseases
        Int J Mol Sci. 2019 Apr 17;20(8). pii: E1898. doi: 10.3390/ijms20081898. Review.
        https://www.ncbi.nlm.nih.gov/pubmed/30999610
      • Andreasen CM, Jurik AG, Glerup M, Høs C, Mahler B, Hauge EM, Herlin T.
        Response to Early-onset Pamidronate Treatment in Chronic Non-Bacterial Osteomyelitis: A Retrospective Single Center Study
        J Rheumatol. 2019 Apr 15. pii: jrheum.181254. doi: 10.3899/jrheum.181254. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/30988129
      • Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, Anton J, Arostegui JI, Barron K, Ben-Cherit E, Brogan PA, Cantarini L, Ceccherini I, De Benedetti F, Dedeoglu F, Demirkaya E, Frenkel J, Goldbach-Mansky R, Gul A, Hentgen V, Hoffman H, Kallinich T, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Laxer RM, Livneh A, Obici L, Ozen S, Rowczenio D, Russo R, Shinar Y, Simon A, Toplak N, Touitou I, Uziel Y, van Gijn M, Foell D, Garassino C, Kastner D, Martini A, Sormani MP, Ruperto N.
        Classification criteria for autoinflammatory recurrent fevers.
        Ann Rheum Dis. 2019 Apr 24. pii: annrheumdis-2019-215048. doi: 10.1136/annrheumdis-2019-215048. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/31018962
      • Gibson KM, Morishita KA, Dancey P, Moorehead P, Drögemöller B, Han X, Graham J, Hancock RE, Foell D, Benseler S, Luqmani R, Yeung RSM, Shenoi S, Bohm M, Rosenberg AM, Ross CJ, Cabral DA, Brown KL; PedVas investigators network.
        Identification of novel Adenosine Deaminase 2 gene variants and varied clinical phenotype in pediatric vasculitis.
        Arthritis Rheumatol. 2019 Apr 22. doi: 10.1002/art.40913. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/31008556
      • Carmona-Rivera C, Khaznadar SS, Shwin KW, Irizarry-Caro JA, O'Neil LJ, Liu Y, Jacobson KA, Ombrello AK, Stone DL, Tsai WL, Kastner DL, Aksentijevich I, Kaplan MJ, Grayson PC.
        Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2.
        Blood. 2019 Apr 23. pii: blood.2018892752. doi: 10.1182/blood.2018892752. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/31015188
      • Ombrello AK, Qin J, Hoffmann PM, Kumar P, Stone D, Jones A, Romeo T, Barham B, Pinto-Patarroyo G, Toro C, Soldatos A, Zhou Q, Deuitch N, Aksentijevich I, Sheldon SL, Kelly S, Man A, Barron K, Hershfield M, Flegel WA, Kastner DL.
        Treatment Strategies for Deficiency of Adenosine Deaminase 2.
        N Engl J Med. 2019 Apr 18;380(16):1582-1584. doi: 10.1056/NEJMc1801927.
        https://www.ncbi.nlm.nih.gov/pubmed/30995379
      • Havnaer A, Han G.
        Autoinflammatory Disorders: A Review and Update on Pathogenesis and Treatment.
        Am J Clin Dermatol. 2019 Apr 17. doi: 10.1007/s40257-019-00440-y. [Epub ahead of print] Review.
        https://www.ncbi.nlm.nih.gov/pubmed/30997665
      • Sparud-Lundin C, Berg S, Fasth A, Karlsson A, Wekell P.
        From uncertainty to gradually managing and awaiting recovery of a periodic condition- a qualitative study of parents´ experiences of PFAPA syndrome.
        BMC Pediatr. 2019 Apr 8;19(1):99. doi: 10.1186/s12887-019-1458-y.
        https://www.ncbi.nlm.nih.gov/pubmed/30961562
 
MARZO 2019
      • Stella A, Cortellessa F, Scaccianoce G, Pivetta B, Settimo E, Portincasa P
        Familial Mediterranean fever: breaking all the (genetic) rules
        Rheumatology (Oxford) 2019 Mar; 58(3):463–467
        https://doi.org/10.1093/rheumatology/key328
      • Boursier G, Hentgen V, Sarrabay G, Koné-Paut I, Touitou I.
        The Changing Concepts Regarding the Mediterranean Fever Gene: Toward a Spectrum of Pyrin-Associated Autoinflammatory Diseases with Variable Heredity.
        J Pediatr. 2019 Mar 27. pii: S0022-3476(19)30271-9. doi: 10.1016/j.jpeds.2019.02.039. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/30928144
      • García-Robledo JE, Aragón CC, Nieto-AristizabalIván I, Posso-Osorio I, Cañas CA, Tobón GJ
        Tofacitinib for familial Mediterranean fever: a new alternative therapy?
        Rheumatology (Oxford) 2019 Mar; 58(3):553–554
        https://doi.org/10.1093/rheumatology/key384
      • Cakici EK, Şükür EDK, Özlü SG, Yazılıtaş F, Özdel S, Gür G, Eroğlu FK, Güngör T, Çelikkaya E, Bağlan E, Bülbül M.
        MEFV gene mutations in children with Henoch-Schönlein purpura and their correlations-do mutations matter?
        Clin Rheumatol. 2019 Mar 2. doi: 10.1007/s10067-019-04489-2. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/30826945
      • Briand C, Frémond M, Bessis D, Carbasse A, Rice GI, Bondet Vincent, Duffy D, Chatenoud L, Blanche S, Crow YJ, Neven B
        Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency.
        Ann Rheum Dis 2019 Mar;78(3):431-433.
        https://ard.bmj.com/content/78/3/431
      • Kilic H, Sahin S, Duman C, Adrovic A, Barut K, Turanli ET, Yildirim SR, Kizilkilic O, Kasapcopur O, Saltik S.
        Spectrum of the neurologic manifestations in childhood-onset cryopyrin-associated periodic syndrome.
        Eur J Paediatr Neurol. 2019 Mar 28. pii: S1090-3798(18)30566-X. doi: 10.1016/j.ejpn.2019.03.006. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/30967326
      • Jarosz-Griffiths HH, Holbrook J, Lara-Reyna S, McDermott MF
        TNF receptor signalling in autoinflammatory diseases.
        Int Immunol. 2019 Mar 6. pii: dxz024. doi: 10.1093/intimm/dxz024. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/30838383
      • Chuamanochan M, Weller K, Feist E, Kallinich T, Maurer M, Kümmerle-Deschner J, Krause K.
        State of care for patients with systemic autoinflammatory diseases - Results of a tertiary care survey.
        World Allergy Organ J. 2019 Mar 14;12(3):100019.
        https://www.ncbi.nlm.nih.gov/pubmed/30937142
      • Renko M, Lantto U, Tapiainen T.
        Towards better diagnostic criteria for PFAPA (periodic fever, aphthous stomatitis, pharyngitis and adenitis) syndrome.
        Acta Paediatr. 2019 Mar 22. doi: 10.1111/apa.14792. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/30901126
      • Blank N, Lorenz HM.
        Idiopathic Pericarditis-an Autoinflammatory Disease?
        Curr Rheumatol Rep. 2019 Mar 9;21(5):18.
        https://www.ncbi.nlm.nih.gov/pubmed/30852700
 
FEBRERO 2019
      • Karacan İ, Balamir A, Uğurlu S, Aydın AK, Everest E, Zor S, Önen MÖ, Daşdemir S, Özkaya O, Sözeri B, Tufan A, Yıldırım DG, Yüksel S, Ayaz NA, Ömeroğlu RE, Öztürk K, Çakan M, Söylemezoğlu O, Şahin S, Barut K, Adroviç A, Seyahi E, Özdoğan H, Kasapçopur Ö, Turanlı ET.
        Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.
        Rheumatol Int. 2019 Feb 19. doi: 10.1007/s00296-019-04252-5. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/30783801
      • Aydın F, Çakar N, Özçakar ZB, Uncu N, Başaran Ö, Özdel S, Çelikel E, Elhan AH, Yalçınkaya F.
        Clinical features and disease severity of Turkish FMF children carrying E148Q mutation.
        J Clin Lab Anal. 2019 Feb 4:e22852. doi: 10.1002/jcla.22852. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/30714637
      • Wekell P.
        Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome - PFAPA syndrome.
        Presse Med. 2019 Feb;48(1 Pt 2):e77-e87. doi: 10.1016/j.lpm.2018.08.016. Epub 2019 Jan 22.
        https://www.ncbi.nlm.nih.gov/pubmed/30683466
 
ENERO 2019
      • Ekinci RMK, Balcı S, Akay E, Tumgor G, Dogruel D, Altintas DU, Yilmaz M.
        Frequency of functional gastrointestinal disorders in children with familial Mediterranean fever.
        Clin Rheumatol. 2019 Jan 31. doi: 10.1007/s10067-019-04452-1. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/30706291
      • Gaggiano C, Rigante D, Sota J, Grosso S, Cantarini L.
        Treatment options for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome in children and adults: a narrative review.
        Clin Rheumatol. 2019 Jan;38(1):11-17. doi: 10.1007/s10067-018-4361-2. Epub 2018 Nov 28.
        https://www.ncbi.nlm.nih.gov/pubmed/30488366
      • C Papadopoulou, E Omoyinmi, A Standing, C E Pain, C Booth, F D’Arco, K Gilmour, M Buckland, D Eleftheriou, P A Brogan.
        Monogenic mimics of Behçet’s disease in the Young.
        Rheumatology 2019 Jan. https://doi.org/10.1093/rheumatology/key445
        https://www.ncbi.nlm.nih.gov/pubmed/30715505
 
DICIEMBRE 2018
 
OCTUBRE 2018
      • Hausmann JS.
        Targeting cytokines to treat autoinflammatory diseases.
        Clin Immunol. 2018 Oct 27. pii: S1521-6616(18)30432-7. doi: 10.1016/j.clim.2018.10.016. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/30394352
      • Hong Y, Standing ASI, Nanthapisal S, Sebire N, Jolles S, Omoyinmi E, Verstegen RH, Brogan PA, Eleftheriou D.
        Autoinflammation due to homozygous S208 MEFV mutation
        Ann Rheum Dis. 2018 Oct 24. pii: annrheumdis-2018-214102. doi: 10.1136/annrheumdis-2018-214102. [Epub ahead of print]

        https://www.ncbi.nlm.nih.gov/pubmed/30355575
 
SEPTIEMBRE 2018
      • Mensa-Vilaró A, García-Morato MB, de la Calle-Martin O, Franco-Jarava C, Martínez-Saavedra MT, González-Granado LI, González-Roca E, Fuster JL, Alsina L, Mutchinick OM, Balderrama-Rodríguez A, Ramos E, Modesto C, Mesa-Del-Castillo P, Ortego-Centeno N, Clemente D, Souto A, Palmou N, Remesal A, Leslie KS, Gómez de la Fuente E, Bravo Gallego LY, Campistol JM, Dhouib NG, Bejaoui M, Dutra LA, Terreri MT, Mosquera C, González T, Cañellas J, García-Ruiz de Morales JM, Wouters CH, Bosque MT, Cham WT, Jiménez-Treviño S, de Inocencio J, Bloomfield M, Pérez de Diego R, Martínez-Pomar N, Rodríguez-Pena R, González-Santesteban C, Soler-Palacín P, Casals F, Yagüe J, Allende LM, Rodríguez-Gallego JC, Colobran R, Martínez-Martínez L, López-Granados E, Aróstegui JI
        Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases.
        J Allergy Clin Immunol. 2018 Sep 28. pii: S0091-6749(18)31358-7. doi: 10.1016/j.jaci.2018.09.009. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/30273710
      • Labrousse M, Kevorkian-Verguet C, Boursier G, Rowczenio D, Maurier F, Lazaro E, Aggarwal M, Lemelle I, Mura T, Belot A, Touitou I, Sarrabay G.
        Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review.
        Crit Rev Clin Lab Sci. 2018 Sep;55(6):432-442
        https://www.ncbi.nlm.nih.gov/pubmed/30035647
      • Moghaddas F, Masters SL.
        The classification, genetic diagnosis and modelling of monogenic autoinflammatory disorders.
        Clin Sci (Lond). 2018 Sep 5;132(17):1901-1924
        https://www.ncbi.nlm.nih.gov/pubmed/30185613
      • Vanoni F, Caorsi R, Aeby S, Cochard M, Antón J, Berg S, Brik R, Dolezalova P, Koné-Paut I, Neven B, Ozen S, Pillet P, Stojanov S, Wouters C, Gattorno M, Hofer M.
        Towards a new set of classification criteria for PFAPA syndrome.
        Pediatr Rheumatol Online J. 2018 Sep 21;16(1):60.
        https://www.ncbi.nlm.nih.gov/pubmed/30241480
      • Keddie S, Parker T, Lachmann HJ, Ginsberg L.
        Cryopyrin-Associated Periodic Fever Syndrome and the Nervous System.
        Curr Treat Options Neurol. 2018 Sep 3;20(10):43
        https://www.ncbi.nlm.nih.gov/pubmed/30175395
      • Aeschlimann FA, Laxer RM
        Haploinsufficiency of A20 and other paediatric inflammatory disorders with mucosal involvement.
        Curr Opin Rheumatol. 2018 Sep;30(5):506-513
        https://www.ncbi.nlm.nih.gov/pubmed/29916847
      • Cardis MA, Montealegre Sanchez GA, Goldbach-Mansky R, Richard Lee CC, Cowen EW.
        Recurrent fevers, progressive lipodystrophy and annular plaques in a child.
        J Am Acad Dermatol. 2018 Sep 8. pii: S0190-9622(18)32498-8. doi: 10.1016/j.jaad.2018.08.043. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/30205133
      • Holzinger D, Foell D, Kessel C.
        The role of S100 proteins in the pathogenesis and monitoring of autoinflammatory diseases.
        Mol Cell Pediatr. 2018 Sep 25;5(1):7.
        https://www.ncbi.nlm.nih.gov/pubmed/30255357
      • Martinez-Rios C, Jariwala MP, Highmore K, Duffy KW, Spiegel L, Laxer RM, Stimec J
        Imaging findings of sterile pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome: differential diagnosis and review of the literature.
        Pediatr Radiol. 2018 Sep 17. doi: 10.1007/s00247-018-4246-1. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/30225645
 
AGOSTO 2018
      • Rafiq NK, Lachmann H, Joensen F, Herlin T, Brogan PA.
        Tocilizumab for the Treatment of Mevalonate Kinase Deficiency.
        Case Rep Pediatr. 2018 Aug 26;2018:3514645.
        https://www.ncbi.nlm.nih.gov/pubmed/30225156
      • Sönmez HE, Esmeray P, Batu ED, Arıcı ZS, Demir S, Sağ E, Özen S, Bilginer Y.
        Is age associated with disease severity and compliance to treatment in children with familial Mediterranean fever?
        Rheumatol Int. 2018 Aug 7. doi: 10.1007/s00296-018-4123-0. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/30088045
      • Latour I, Noguera-Morel L, Colmenero I, Clemente D, Hernández-Martín A, López-Robledillo JC, Arostegui JI, Torrelo A.
        Chronic urticaria in infants as the first manifestation of autoinflammatory disease.
        Pediatr Dermatol. 2018 Aug 30. doi: 10.1111/pde.13619. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/30168189
      • Fabiani C, Vitale A, Rigante D, Emmi G, Lopalco G, Di Scala G, Sota J, Orlando I, Franceschini R, Frediani B, Galeazzi M, Iannone F, Tosi GM, Cantarini L.
        The Presence of Uveitis Is Associated with a Sustained Response to the Interleukin (IL)-1 Inhibitors Anakinra and Canakinumab in Behçet's Disease.
        Ocul Immunol Inflamm. 2018 Aug 27:1-7. doi: 10.1080/09273948.2018.1511810. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/30148652
      • Ben-Chetrit E, Gattorno M, Gul A, Kastner DL, Lachmann HJ, Touitou I, Ruperto N; Paediatric Rheumatology International Trials Organisation (PRINTO) and the AIDs Delphi study participants
        Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study.
        Ann Rheum Dis. 2018 Aug 12. pii: annrheumdis-2017-212515. doi: 10.1136/annrheumdis-2017-212515. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/30100561
      • Sota J, Vitale A, Rigante D, Orlando I, Lucherini OM, Simpatico A, Lopalco G, Franceschini R, Galeazzi M, Frediani B, Fabiani C, Tosi GM, Cantarini L.
        Correlation of Serum Amyloid-A Levels, Clinical Manifestations, Treatment, and Disease Activity in Patients with Behçet's Disease.
        Isr Med Assoc J. 2018 Aug;20(8):517-521.
        https://www.ncbi.nlm.nih.gov/pubmed/30084580
      • Ter Haar NM, van Delft ALJ, Annink KV, van Stel H, Al-Mayouf SM, Amaryan G, Anton J, Barron KS, Benseler S, Brogan PA, Cantarini L, Cattalini M, Cochino AV, de Benedetti F, Dedeoglu F, de Jesus AA, Demirkaya E, Dolezalova P, Durrant KL, Fabio G, Gallizzi R, Goldbach-Mansky R, Hachulla E, Hentgen V, Herlin T, Hofer M, Hoffman HM, Insalaco A, Jansson AF, Kallinich T, Kone-Paut I, Kozlova A, Kuemmerle-Deschner JB, Lachmann HJ, Laxer RM, Martini A, Nielsen S, Nikishina I, Ombrello AK, Özen S, Papadopoulou-Alataki E, Quartier P, Rigante D, Russo R, Simon A, Trachana M, Uziel Y, Ravelli A, Schulert G, Gattorno M, Frenkel J.
        In silico validation of the Autoinflammatory Disease Damage Index.
        Ann Rheum Dis. 2018 Aug 4. pii: annrheumdis-2018-213725. doi: 10.1136/annrheumdis-2018-213725. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/30077992
      • Reeves E, James E.
        The role of polymorphic ERAP1 in autoinflammatory disease.
        Biosci Rep. 2018 Aug 29;38(4). pii: BSR20171503. doi: 10.1042/BSR20171503. Print 2018 Sep 3.
        https://www.ncbi.nlm.nih.gov/pubmed/30054427
      • Grimwood C, Kone-Paut I, Piram M, Rossi-Semerano L, Hentgen V.
        Health-related quality of life in children with PFAPA syndrome.
        Orphanet J Rare Dis. 2018 Aug 9;13(1):132. doi: 10.1186/s13023-018-0878-3.
        https://www.ncbi.nlm.nih.gov/pubmed/30092788
      • Kettunen S, Lantto U, Koivunen P, Tapiainen T, Uhari M, Renko M.
        Risk factors for periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome: a case-control study.
        Eur J Pediatr. 2018 Aug;177(8):1201-1206. doi: 10.1007/s00431-018-3175-1. Epub 2018 May 25.
        https://www.ncbi.nlm.nih.gov/pubmed/29799086
 
JULIO 2018
      • Wang L, Rosé CD, Foley KP, Anton J, Bader-Meunier B, Brissaud P, Chédeville G, Cimaz R, Fernández-Martín J, Guly C, Hachulla E, Harjacek M, Mackensen F, Merino R, Modesto C, Naranjo Hernández A, Pajot C, Ramanan AV, Thatayatikom A, Thomée C, Vastert S, Votta BJ, Bertin J, Wouters CH.
        S100A12 and S100A8/9 proteins are biomarkers of articular disease activity in Blau syndrome.
        Rheumatology (Oxford). Volume 57, Issue 7, 1 July 2018, Pages 1299–1304. doi: 10.1093/rheumatology/key090. [Epub ahead of print]
      • Adrovic A, Sahin S, Barut K, Kasapcopur O.
        Familial Mediterranean fever and periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome: shared features and main differences.
        Rheumatol Int. 2018 Jul 17. doi: 10.1007/s00296-018-4105-2. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/30019226
 
JUNIO 2018
      • Hatemi G, Christensen R, Bang D, Bodaghi B, Celik AF, Fortune F, Gaudric J, Gul A, Kötter I, Leccese P, Mahr A, Moots R, Ozguler Y, Richter J, Saadoun D, Salvarani C, Scuderi F, Sfikakis PP, Siva A, Stanford M, Tugal-Tutkun I, West R, Yurdakul S, Olivieri I, Yazici H.
        2018 update of the EULAR recommendations for the management of Behçet's syndrome.
        Ann Rheum Dis. 2018 Jun;77(6):808-818. doi: 10.1136/annrheumdis-2018-213225.
        https://www.ncbi.nlm.nih.gov/pubmed/29625968
      • Başaran Ö, Uncu N, Çakar N, Turanlı ET, Kiremitci S, Aydın F, Bayrakcı US.
        C3 glomerulopathy in NLRP12-related autoinflammatory disorder: case-based review.
        Rheumatol Int. 2018 Jun 27. doi: 10.1007/s00296-018-4092-3
        https://www.ncbi.nlm.nih.gov/pubmed/29951964
      • Hoffman HM, Broderick L.
        JAK inhibitors in autoinflammation.
        J Clin Invest. 2018 Jun 11. pii: 121526. doi: 10.1172/JCI121526
        https://www.ncbi.nlm.nih.gov/pubmed/29889100
      • Davis MDP, van der Hilst JCH.
        Mimickers of Urticaria: Urticarial Vasculitis and Autoinflammatory Diseases.
        J Allergy Clin Immunol Pract. 2018 Jun 2. pii: S2213-2198(18)30328-3. doi: 10.1016/j.jaip.2018.05.006
        https://www.ncbi.nlm.nih.gov/pubmed/29871797
      • Jamilloux Y, Belot A, Magnotti F, Benezech S, Gerfaud-Valentin M, Bourdonnay E, Walzer T, Sève P, Henry T.
        Geoepidemiology and Immunologic Features of Autoinflammatory Diseases: a Comprehensive Review.
        Clin Rev Allergy Immunol. 2018 Jun;54(3):454-479. doi: 10.1007/s12016-017-8613-8
        https://www.ncbi.nlm.nih.gov/pubmed/28578473
      • Rigante D, Frediani B, Cantarini L.
        A Comprehensive Overview of the Hereditary Periodic Fever Syndromes.
        Clin Rev Allergy Immunol. 2018 Jun;54(3):446-453. doi: 10.1007/s12016-016-8537-8
        https://www.ncbi.nlm.nih.gov/pubmed/27068928
 
MAYO 2018
      • Hatemi G, Christensen R, Bang D, Bodaghi B, Celik AF, Fortune F, Gaudric J, Gul A, Kötter I, Leccese P, Mahr A, Moots R, Ozguler Y, Richter J, Saadoun D, Salvarani C, Scuderi F, Sfikakis PP, Siva A, Stanford M, Tugal-Tutkun I, West R, Yurdakul S, Olivieri I, Yazici H.
        2018 update of the EULAR recommendations for the management of Behçet's syndrome.
        Ann Rheum Dis. 2018 Jun;77(6):808-818. doi: 10.1136/annrheumdis-2018-213225.
        https://www.ncbi.nlm.nih.gov/pubmed/29625968
      • Kostik MM, Suspitsin EN, Guseva MN, Levina AS, Kazantseva AY, Sokolenko AP, Imyanitov EN.
        Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders.
        Rheumatol Int. 2018 May;38(5):887-893. doi: 10.1007/s00296-018-4002-8. Epub 2018 Mar 2.
        https://www.ncbi.nlm.nih.gov/pubmed/29500522
      • Alibaz-Oner F, Sawalha AH, Direskeneli H.
        Management of Behçet's disease.
        Curr Opin Rheumatol. 2018 May;30(3):238-242. doi:10.1097/BOR.0000000000000497.
        https://www.ncbi.nlm.nih.gov/pubmed/29432223
      • Gazi U, Agada ME, Ozkayalar H, Dalkan C, Sanlidag B, Safak MA, Mocan G, Bahceciler NO.
        Tonsillar antimicrobial peptide (AMP) expression profiles of periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) patients.
        Int J Pediatr Otorhinolaryngol. 2018 Jul;110:100-104. doi: 10.1016/j.ijporl.2018.05.005. Epub 2018 May 8.
        https://www.ncbi.nlm.nih.gov/pubmed/29859567
      • Alam F, Hammoudeh M.
        An Underlooked Cause of Periodic Fever (PFAPA) in an Adult Patient with No Response to Tonsillectomy.
        Case Rep Rheumatol. 2018 May 2;2018:6580835. doi: 10.1155/2018/6580835. eCollection 2018.
        https://www.ncbi.nlm.nih.gov/pubmed/29854539
      • Steiner A, Harapas CR, Masters SL, Davidson S.
        An Update on Autoinflammatory Diseases: Relopathies.
        Curr Rheumatol Rep. 2018 May 30;20(7):39. doi: 10.1007/s11926-018-0749-x. Review.
        https://www.ncbi.nlm.nih.gov/pubmed/29846841
      • Harapas CR, Steiner A, Davidson S, Masters SL.
        An Update on Autoinflammatory Diseases: Inflammasomopathies.
        Curr Rheumatol Rep. 2018 May 30;20(7):40. doi: 10.1007/s11926-018-0750-4. Review.
        https://www.ncbi.nlm.nih.gov/pubmed/29846819
      • Davidson S, Steiner A, Harapas CR, Masters SL.
        An Update on Autoinflammatory Diseases: Interferonopathies.
        Curr Rheumatol Rep. 2018 May 30;20(7):38. doi: 10.1007/s11926-018-0748-y. Review.
        https://www.ncbi.nlm.nih.gov/pubmed/29846818
      • Zheng C, Huang Y, Ye Z, Wang Y, Tang Z, Lu J, Wu J, Zhou Y, Wang L, Huang Z, Yang H, Xue A.
        Infantile Onset Intractable Inflammatory Bowel Disease Due to Novel Heterozygous Mutations in TNFAIP3 (A20).
        Inflamm Bowel Dis. 2018 May 17. doi: 10.1093/ibd/izy165. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/29788367
      • Roig-Abraham N, Méndez-Hernández M, Martínez-Morillo M.
        Chronic recurrent multifocal osteomyelitis in pediatrics: A diagnostic challenge.
        Rev Esp Cir Ortop Traumatol. 2018 May 15. pii: S1888-4415(18)30071-7. doi: 10.1016/j.recot.2018.03.008. [Epub ahead of print] English, Spanish.
        https://www.ncbi.nlm.nih.gov/pubmed/29776891
      • Rigante D, Manna R, Verrecchia E, Marrocco R, Leone A.
        Resolution of femoral metaphyseal dysplasia in CINCA syndrome after long-term treatment with interleukin-1 blockade.
        Clin Rheumatol. 2018 May 16. doi: 10.1007/s10067-018-4145-8. [Epub ahead of print] Review.
        https://www.ncbi.nlm.nih.gov/pubmed/29766377
 
ABRIL 2018
      • Canna SW, Goldbach-Mansky R.
        Introduction: Autoinflammatory Syndromes Special Issue-hidden mysteries in the corners of autoinflammation.
        Int Immunol. 2018 Apr 25;30(5):181-182. doi: 10.1093/intimm/dxy022.
        https://www.ncbi.nlm.nih.gov/pubmed/29697820
      • Rama M, Duflos C, Melki I, Bessis D, Bonhomme A, Martin H, Doummar D, Valence S, Rodriguez D, Carme E, Genevieve D, Heimdal K, Insalaco A, Franck N14, Queyrel-Moranne V, Tieulie N, London J, Uettwiller F, Georgin-Lavialle S, Belot A, Koné-Paut I, Hentgen V, Boursier G, Touitou I, Sarrabay G.
        A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.
        Eur J Hum Genet. 2018 Apr 23. doi: 10.1038/s41431-018-0130-6. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/29681619
      • Emmi G, Vitale A, Silvestri E, Boddi M, Becatti M, Fiorillo C, Fabiani C, Frediani B, Emmi L, Scala GD, Goldoni M, Bettiol A, Vaglio A, Cantarini L, Prisco D.
        Adalimumab-based treatment versus DMARDs for venous thrombosis in Behçet syndrome. A retrospective study of 70 patients with vascular involvement.
        Arthritis Rheumatol. 2018 Apr 20. doi: 10.1002/art.40531. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/29676522
      • Scambler T, Holbrook J, Savic S, McDermott MF, Peckham D.
        Autoinflammatory Disease in the Lung.
        Immunology. 2018 Apr 19. doi: 10.1111/imm.12937. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/29676014
      • Fabiani C, Vitale A, Rigante D, Emmi G, Lopalco G, Sota J, Vannozzi L, di Scala G, Guerriero S, Orlando I, Franceschini R, Capozzoli M, Frediani B, Galeazzi M, Iannone F, Tosi GM, Cantarini L.
        Predictors of sustained clinical response in patients with Behçet's disease-related uveitis treated with infliximab and adalimumab.
        Clin Rheumatol. 2018 Apr 18. doi: 10.1007/s10067-018-4092-4. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/29671190
      • Sanchez GAM, Reinhardt A, Ramsey S, Wittkowski H, Hashkes PJ, Berkun Y, Schalm S, Murias S, Dare JA, Brown D, Stone DL, Gao L, Klausmeier T, Foell D, Jesus AA, Chapelle DC, Kim H, Dill S, Colbert R, Failla L, Kost B, O'Brien M, Reynolds JC, Folio LR, Calvo KR, Paul SM, Weir N, Brofferio A, Soldatos A, Biancotto A, Cowen EW, Digiovanna JG, Gadina M, Lipton AJ, Hadigan C, Holland SM, Fontana J, Alawad AS, Brown RJ, Rother KI, Heller T, Brooks KM, Kumar P, Brooks SR, Waldman M, Singh HK, Nickeleit V, Silk M, Prakash A, Janes JM, Ozen S, Wakim PG, Brogan PA, Macias WL, Goldbach-Mansky R.
        JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies.
        J Clin Invest. 2018 Apr 12. pii: 98814. doi: 10.1172/JCI98814. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/29649002
      • Brucato A, Emmi G, Cantarini L, Di Lenarda A, Gattorno M, Lopalco G, Marcolongo R, Imazio M, Martini A, Prisco D.
        Management of idiopathic recurrent pericarditis in adults and in children: a role for IL-1 receptor antagonism.
        Intern Emerg Med. 2018 Apr 9. doi: 10.1007/s11739-018-1842-x. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/29633070ç
      • Szymanski AM, Ombrello MJ.
        Using genes to triangulate the pathophysiology of granulomatous autoinflammatory disease: NOD2, PLCG2 and LACC1.
        Int Immunol. 2018 Apr 25;30(5):205-213. doi: 10.1093/intimm/dxy021.
        https://www.ncbi.nlm.nih.gov/pubmed/29538758
 
MARZO 2018
      • Girschick H, Finetti M, Orlando F, Schalm S, Insalaco A, Ganser G, Nielsen S, Herlin T, Koné-Paut I, Martino S, Cattalini M, Anton J, Mohammed Al-Mayouf S, Hofer M, Quartier P, Boros C, Kuemmerle-Deschner J, Pires Marafon D, Alessio M, Schwarz T, Ruperto N, Martini A, Jansson A, Gattorno M; PRINTO and the Eurofever registry.
        The multifaceted presentation of chronic recurrent multifocal osteomyelitis: a series of 486 cases from the Eurofever international registry.
        Rheumatology (Oxford). 2018 Mar 27. doi: 10.1093/rheumatology/key058. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/29596638
      • Van Gijn ME, Ceccherini I, Shinar Y, Carbo EC, Slofstra M, Arostegui JI, Sarrabay G, Rowczenio D, Omoyımnı E, Balci-Peynircioglu B, Hoffman HM, Milhavet F, Swertz MA, Touitou I.
        New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).
        J Med Genet. 2018 Mar 29. pii: jmedgenet-2017-105216. doi: 10.1136/jmedgenet-2017-105216. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/29599418
      • Tanaka T, Yoshioka K, Nishikomori R, Sakai H, Abe J, Yamashita Y, Hiramoto R, Morimoto A, Ishii E, Arakawa H, Kaneko U, Ohshima Y, Okamoto N, Ohara O, Hata I, Shigematsu Y, Kawai T, Yasumi T, Heike T.
        National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.
        Mod Rheumatol. 2018 Mar 2:1-7. doi: 10.1080/14397595.2018.1442639. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/29451047
      • Aydin F, Özçakar ZB, Çakar N, Çelikel E, Uncu N, Çelikel Acar B, Yalçinkaya F.
        Sacroiliitis in Children With Familial Mediterranean Fever.
        J Clin Rheumatol. 2018 Mar 29. doi: 10.1097/RHU.0000000000000770. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/29596210
 
FEBRERO 2018
      • Harel L, Hashkes PJ, Lapidus S, Edwards KM, Padeh S, Gattorno M, Marshall GS.
        The First International Conference on Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome.
        J Pediatr. 2018 Feb;193:265-274.e3.
        https://www.ncbi.nlm.nih.gov/pubmed/29246466
      • Cherqaoui B, Rossi-Semerano L, Georgin-Lavialle S, Dusser P, Galeotti C, Piram M, Hentgenb V, Touitou I, Koné-Paut I.
        Boundaries between familial Mediterranean fever and juvenile spondyloarthritis: Analysis of three French retrospective cohorts.
        Joint Bone Spine. 2018 Feb 13. pii: S1297-319X(18)30013-7. doi: 10.1016/j.jbspin.2018.01.010. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/29452306
 
ENERO 2018
      • Awad F, Assrawi E, Louvrier C, Jumeau C, Georgin-Lavialle S, Grateau G, Amselem S, Giurgea I, Karabina SA.
        Inflammasome biology, molecular pathology and therapeutic implications
        Pharmacol Ther. 2018 Feb 18. pii: S0163-7258(18)30036-6. doi: 10.1016/j.pharmthera.2018.02.011
        https://www.ncbi.nlm.nih.gov/pubmed/29466702
      • De Pauli S, Lega S, Pastore S, Grasso DL, Bianco AMR, Severini GM, Tommasini A, Taddio A.
        Neither hereditary periodic fever nor periodic fever, aphthae, pharingitis, adenitis: Undifferentiated periodic fever in a tertiary pediatric center
        World J Clin Pediatr. 2018 Feb 8;7(1):49-55. doi: 10.5409/wjcp.v7.i1.49. eCollection 2018 Feb 8.
        https://www.ncbi.nlm.nih.gov/pubmed/29456932

      • Aeschlimann FA, Batu ED, Canna SW, Go E, Gül A, Hoffmann P, Leavis HL, Ozen S, Schwartz DM, Stone DL, van Royen-Kerkof A, Kastner DL, Aksentijevich I, Laxer RM.
        A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB mediated autoinflammatory disease.
        Ann Rheum Dis. 2018 Jan 9. pii: annrheumdis-2017-212403. doi: 10.1136/annrheumdis-2017-212403. [Epub ahead of print]
        https://www.ncbi.nlm.nih.gov/pubmed/29317407

      • Roderick MR, Sen ES, Ramanan AV.
        Chronic recurrent multifocal osteomyelitis in children and adults: current understanding and areas for development.
        Rheumatology (Oxford). 2018 Jan 1;57(1):41-48. doi: 10.1093/rheumatology/kex066.
        https://www.ncbi.nlm.nih.gov/pubmed/28486628

      • Harel L, Hashkes PJ, Lapidus S, Edwards KM, Padeh S, Gattorno M, Marshall GS.
        The First International Conference on Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome.
        J Pediatr. 2018 Feb;193:265-274.e3. doi: 10.1016/j.jpeds.2017.10.034. Epub 2017 Dec 12.
        https://www.ncbi.nlm.nih.gov/pubmed/29246466

 
DICIEMBRE 2017
          • Taddio A, Ferrara G, Insalaco A, Pardeo M, Gregori M, Finetti M, Pastore S, Tommasini A, Ventura A, Gattorno M.
            Dealing with Chronic Non-Bacterial Osteomyelitis: a practical approach.
            Pediatr Rheumatol Online J. 2017 Dec 29;15(1):87. doi: 10.1186/s12969-017-0216-7.
            https://www.ncbi.nlm.nih.gov/pubmed/29287595
          • Alsultan A, Basher E, Alqanatish J, Mohammed R, Alfadhel M.
            Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis.
            Pediatr Blood Cancer. 2017 Dec 22. doi: 10.1002/pbc.26912. [Epub ahead of print]
            https://www.ncbi.nlm.nih.gov/pubmed/29271561
          • Thanarajasingam U, Jensen MA, Dorschner JM, Wampler Muskardin T, Ghodke-Puranik Y, Purmalek M, Eliopoulos E, Zervou MI, Goulielmos GN, Howard M, Kaplan MJ, Niewold TB.
            Brief Report: A Novel ELANE Mutation Associated With Inflammatory Arthritis, Defective NETosis, and Recurrent Parvovirus Infection.
            Arthritis Rheumatol. 2017 Dec;69(12):2396-2401.
            https://www.ncbi.nlm.nih.gov/pubmed/28881492
          • Mantovani A.
            Wandering pathways in the regulation of innate immunity and inflammation.
            J Autoimmun. 2017 Dec;85:1-5.
            https://www.ncbi.nlm.nih.gov/pubmed/29079064
          • Gallizzi R, Pidone C, Cantarini L, Finetti M, Cattalini M, Filocamo G, Insalaco A, Rigante D, Consolini R, Maggio MC, Civino A, Martino S, Olivieri AN, Fabio G, Pastore S, Mauro A, Sutera D, Trimarchi G, Ruperto N, Gattorno M, Cimaz R.
            A national cohort study on pediatric Behçet's disease: cross-sectional data from an Italian registry.
            Pediatr Rheumatol Online J. 2017 Dec 21;15(1):84.
            https://www.ncbi.nlm.nih.gov/pubmed/29268757
          • Ibáñez Alcalde MLM, Caldevilla Asenjo L, Calvo Rey C, García-Mon Marañés F, Blázquez Gamero D, Saavedra Lozano J, Navarro Gómez ML, Hernández-Sampelayo Matos T, Santos Sebastián M.
            Características y evolución de una cohorte de niños con síndrome PFAPA en la Comunidad de Madrid.
            Reumatol Clin. 2017 Dec 8. pii: S1699-258X(17)30274-7. doi: 10.1016/j.reuma.2017.10.015. [Epub ahead of print]
            https://www.ncbi.nlm.nih.gov/pubmed/29229448
          • Kadowaki T, Ohnishi H, Kawamoto N, Hori T, Nishimura K, Kobayashi C, Shigemura T, Ogata S, Inoue Y, Kawai T, Hiejima E, Takagi M, Imai K, Nishikomori R, Ito S, Heike T, Ohara O, Morio T, Fukao T, Kanegane H.
            Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders.
            J Allergy Clin Immunol. 2017 Dec 11. pii: S0091-6749(17)31885-7. doi: 10.1016/j.jaci.2017.10.039. [Epub ahead of print]
            https://www.ncbi.nlm.nih.gov/pubmed/29241730
          • Kiyani A, Parperis K, Parperis K.
            Familial Mediterranean Fever Imitating Lupus Flare: A Rare Coexistence of an Autoimmune With an Autoinflammatory Disease.
            J Clin Rheumatol. 2017 Dec 1. doi: 10.1097/RHU.0000000000000636. [Epub ahead of print]
            https://www.ncbi.nlm.nih.gov/pubmed/29200027
          • Sighart R, Rech J, Hueber A, Blank N, Löhr S, Reis A, Sticht H, Hüffmeier U.
            Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes.
            Rheumatol Int. 2017 Nov 20. doi: 10.1007/s00296-017-3885-0. [Epub ahead of print]
            https://www.ncbi.nlm.nih.gov/pubmed/29159471
 
NOVIEMBRE 2017
            • Bujan-Rivas S, Basagaña M, Sena F, Méndez M, Dordal MT, Gonzalez-Roca E, Ruiz-Ortiz E, Mensa-Vilaró A, Plaza S, Modesto C, Ordi-Ros J, Yagüe J, Martínez-Valle F, Aróstegui JI.
              Novel evidences of atypical manifestations in cryopyrin-associated periodic syndromes.
              Clin Exp Rheumatol. 2017 Nov-Dec;35 Suppl 108(6):27-31.
              https://www.ncbi.nlm.nih.gov/pubmed/28079503
            • Lasigliè D, Mensa-Vilaro A, Ferrera D, Caorsi R, Penco F, Santamaria G, Di Duca M, Amico G, Nakagawa K, Antonini F, Tommasini A, Consolini R, Insalaco A, Cattalini M, Obici L, Gallizzi R, Santarelli F, Del Zotto G, Severino M, Rubartelli A, Ravazzolo R, Martini A, Ceccherini I, Nishikomori R, Gattorno M, Arostegui JI, Borghini S.
              Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.
              J Rheumatol. 2017 Nov;44(11):1667-1673
              https://www.ncbi.nlm.nih.gov/pubmed/28916543
            • Kim H, Brooks KM, Tang CC, Wakim P, Blake M, Brooks SR, Montealegre Sanchez GA, de Jesus AA, Huang Y, Tsai WL, Gadina M, Prakash A, Janes JM, Zhang X, Macias WL, Kumar P, Goldbach-Mansky R.
              Pharmacokinetics, Pharmacodynamics, and Proposed Dosing of the Oral JAK1 and JAK2 Inhibitor Baricitinib in Pediatric and Young Adult CANDLE and SAVI Patients.
              Clin Pharmacol Ther. 2017 Nov 14
              https://www.ncbi.nlm.nih.gov/pubmed/29134648
            • Ekinci RMK, Balci S, Serbes M, Dogruel D, Altintas DU, Yilmaz M.
              Decreased serum vitamin B12 and vitamin D levels affect sleep quality in children with familial Mediterranean fever.
              Rheumatol Int. 2017 Nov 15
              https://www.ncbi.nlm.nih.gov/pubmed/29143127
            • Heilig R, Broz P.
              Function and mechanism of the pyrin inflammasome.
              Eur J Immunol. 2017 Nov 16
              https://www.ncbi.nlm.nih.gov/pubmed/29148036
            • Sighart R, Rech J, Hueber A, Blank N, Löhr S, Reis A, Sticht H, Hüffmeier U.
              Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes.
              Rheumatol Int. 2017 Nov 20.
              https://www.ncbi.nlm.nih.gov/pubmed/29159471
            • Makay B, Gülez N.
              Long-term follow-up of paediatric MEFV carriers.
              Clin Rheumatol. 2017 Nov 3
              https://www.ncbi.nlm.nih.gov/pubmed/29101676
 
OCTUBRE 2017
              • Jiang H, He H, Chen Y, Huang W, Cheng J, Ye J, Wang A, Tao J, Wang C, Liu Q, Jin T, Jiang W, Deng X, Zhou R.
                Identification of a selective and direct NLRP3 inhibitor to treat inflammatory disorders.
                J Exp Med. 2017 Oct 11. pii: jem.20171419. doi: 10.1084/jem.20171419. [Epub ahead of print]
                https://www.ncbi.nlm.nih.gov/pubmed/29021150
              • Brenner R, Ben-Zvi I, Shinar Y, Liphshitz I, Silverman B, Peled N, Levy C, Ben-Chitrit E, Livneh A, Kivity S.
                Familial Mediterranean fever and incidence of cancer An analysis of 8534 patients with 258,803 person-years.
                Arthritis Rheumatol. 2017 Oct 9. doi: 10.1002/art.40344. [Epub ahead of print]
                https://www.ncbi.nlm.nih.gov/pubmed/28992365
              • Hashem H, Kelly SJ, Ganson NJ, Hershfield MS.
                Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders.
                Curr Rheumatol Rep. 2017 Oct 5;19(11):70. doi: 10.1007/s11926-017-0699-8.
                https://www.ncbi.nlm.nih.gov/pubmed/28983775
              • Papa R, Doglio M, Lachmann HJ, Ozen S, Frenkel J, Simon A, Neven B, Kuemmerle-Deschner J, Ozgodan H, Caorsi R, Federici S, Finetti M, Trachana M, Brunner J, Bezrodnik L, Pinedo Gago MC, Maggio MC, Tsitsami E, Al Suwairi W, Espada G, Shcherbina A, Aksu G, Ruperto N, Martini A, Ceccherini I, Gattorno M; Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever Project.
                A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry
                Orphanet J Rare Dis. 2017 Oct 18;12(1):167. doi: 10.1186/s13023-017-0720-3.
                https://www-ncbi-nlm-nih-gov.sire.ub.edu/pubmed/29047407
              • Jamilloux Y, Lefeuvre L, Magnotti F, Martin A, Benezech S, Allatif O, Penel-Page M, Hentgen V, Sève P, Gerfaud-Valentin M, Duquesne A, Desjonquères M, Laurent A, Rémy-Piccolo V, Cimaz R, Cantarini L, Bourdonnay E, Walzer T, Py BF, Belot A, Henry T.
                Familial Mediterranean fever mutations are hypermorphic mutations that specifically decrease the activation threshold of the Pyrin inflammasome.
                Rheumatology (Oxford). 2017 Oct 12. doi: 10.1093/rheumatology/kex373. [Epub ahead of print]
                https://www-ncbi-nlm-nih-gov.sire.ub.edu/pubmed/29040788
              • Hofmann SR, Kapplusch F, Girschick HJ, Morbach H, Pablik J, Ferguson PJ, Hedrich CM.
                Chronic Recurrent Multifocal Osteomyelitis (CRMO): Presentation, Pathogenesis, and Treatment
                Curr Osteoporos Rep. 2017 Oct 27. doi: 10.1007/s11914-017-0405-9. [Epub ahead of print] Review.
                https://www-ncbi-nlm-nih-gov.sire.ub.edu/pubmed/29080202
              • Collison J.
                Autoinflammation: Stem cell transplantation for DADA2
                Nat Rev Rheumatol. 2017 Oct 20. doi: 10.1038/nrrheum.2017.175. [Epub ahead of print]
                https://www-ncbi-nlm-nih-gov.sire.ub.edu/pubmed/29051624
 
SEPTIEMBRE 2017
              • Nakanishi H, Kawashima Y, Kurima K, Chae JJ, Ross AM, Pinto-Patarroyo G, Patel SK, Muskett JA, Ratay JS, Chattaraj P, Park YH, Grevich S, Brewer CC, Hoa M, Kim HJ, Butman JA, Broderick L, Hoffman HM, Aksentijevich I, Kastner DL, Goldbach-Mansky R, Griffith AJ.
                NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy.
                Proc Natl Acad Sci U S A. 2017 Sep 12;114(37):E7766-E7775. doi: 10.1073/pnas.1702946114. Epub 2017 Aug 28.
                https://www.ncbi.nlm.nih.gov/pubmed/28847925
              • Hernández-Rodríguez J, Ruiz-Ortiz E, Yagüe J.
                Monogenic autoinflammatory diseases: General concepts and presentation in adult patients.
                Med Clin (Barc). 2017 Sep 15. pii: S0025-7753(17)30631-0. doi: 10.1016/j.medcli.2017.07.012. [Epub ahead of print]
                https://www.ncbi.nlm.nih.gov/pubmed/28923673
 
AGOSTO 2017
              • Barut K, Sahin S, Adrovic A, Sinoplu AB, Yucel G, Pamuk G, Aydın AK, Dasdemir S, Turanlı ET, Buyru N, Kasapcopur O.
                Familial Mediterranean fever in childhood: a single-center experience.
                Rheumatol Int. 2017 Aug 21. doi: 10.1007/s00296-017-3796-0. [Epub ahead of print]
                https://www.ncbi.nlm.nih.gov/pubmed/28828621
              • Todd I, Negm OH, Reps J, Radford P, Figueredo G, McDermott EM, Drewe E, Powell RJ, Bainbridge S, Hamed M, Crouch S, Garibaldi J, St-Gallay S, Fairclough LC, Tighe PJ.
                A signalome screening approach in the autoinflammatory disease TNF Receptor Associated Periodic Syndrome (TRAPS) highlights the anti-inflammatory properties of drugs for repurposing.
                Pharmacol Res. 2017 Aug 28. pii: S1043-6618(17)30561-3. doi: 10.1016/j.phrs.2017.08.012. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/28860008
              • Fabiani C, Emmi G, Lopalco G, Vannozzi L, Bacherini D, Guerriero S, Franceschini R, Frediani B, Iannone F, Tosi GM, Rigante D, Cantarini L.
                Intravitreal Dexamethasone Implant as an Adjunct Weapon for Severe and Refractory Uveitis in Behçet's Disease.
                Isr Med Assoc J. 2017 Jul;19(7):415-419.
                https://www.ncbi.nlm.nih.gov/pubmed/28853535
              • Torrelo A.
                CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation.
                Front Immunol. 2017 Aug 9;8:927. doi: 10.3389/fimmu.2017.00927. eCollection 2017.
                https://www.ncbi.nlm.nih.gov/pubmed/28848544
              • Moghaddas F, Llamas R, De Nardo D, Martinez-Banaclocha H, Martinez-Garcia JJ, Mesa-Del-Castillo P, Baker PJ, Gargallo V, Mensa-Vilaro A, Canna S, Wicks IP1,2,8, Pelegrin P, Arostegui JI, Masters SL.
                A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever.
                Ann Rheum Dis. 2017 Aug 23. pii: annrheumdis-2017-211473. doi: 10.1136/annrheumdis-2017-211473. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/28835462
              • Skrabl-Baumgartner A, Plecko B, Schmidt WM, König N, Hershfield M, Gruber-Sedlmayr U, Lee-Kirsch MA.
                Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation.
                Pediatr Rheumatol Online J. 2017 Aug 22;15(1):67. doi: 10.1186/s12969-017-0193-x.
                https://www.ncbi.nlm.nih.gov/pubmed/28830446
              • Burillo-Sanz S, Montes-Cano MA, García-Lozano JR, Ortiz-Fernández L, Ortego-Centeno N, García-Hernández FJ, Espinosa G, Graña-Gil G, Sánchez-Bursón J, Rosa Juliá M, Solans R, Blanco R, Barnosi-Marín AC, Gómez De la Torre R, Fanlo P, Rodríguez-Carballeira M, Rodríguez-Rodríguez L, Camps T, Castañeda S, Alegre-Sancho JJ, Martín J, González-Escribano MF.
                Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach.
                Sci Rep. 2017 Aug 16;7(1):8453. doi: 10.1038/s41598-017-09164-7.
                https://www.ncbi.nlm.nih.gov/pubmed/28814775
              • Bader-Meunier B, Van Nieuwenhove E, Breton S, Wouters C
                Bone involvement in monogenic autoinflammatory syndromes.
                Rheumatology (Oxford). 2017 Aug 22. doi: 10.1093/rheumatology/kex306.
                https://www.ncbi.nlm.nih.gov/pubmed/28968889
              • Cantarini L, Vitale A, Sicignano LL, Emmi G, Verrecchia E, Patisso I, Cerrito L, Fabiani C, Cevenini G, Frediani B, Galeazzi M, Rigante D, Manna R.
                Diagnostic Criteria for Adult-Onset Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome.
                Front Immunol. 2017 Aug 24;8:1018. doi: 10.3389/fimmu.2017.01018.
                https://www.ncbi.nlm.nih.gov/pubmed/28970828
 
JULIO 2017
              • Arostegui JI, Anton J, Calvo I, Robles A, Iglesias E, López-Montesinos B, Banchereau R, Hong S, Joubert Y, Junge G, Pascual V, Yagüe J.
                Open-Label, Phase II Study to Assess the Efficacy and Safety of Canakinumab Treatment in Active Hyperimmunoglobulinemia D With Periodic Fever Syndrome.
                Arthritis Rheumatol. 2017 Aug;69(8):1679-1688. doi: 10.1002/art.40146. Epub 2017 Jul 5.
                https://www.ncbi.nlm.nih.gov/pubmed/28482144
              • Ozen S, Demir S.
                Monogenic Periodic Fever Syndromes: Treatment Options for the Pediatric Patient.
                Paediatr Drugs. 2017 Aug;19(4):303-311. doi: 10.1007/s40272-017-0232-6.
                https://www.ncbi.nlm.nih.gov/pubmed/28497352
              • Omoyinmi E, Standing A, Keylock A, Price-Kuehne F, Melo Gomes S, Rowczenio D, Nanthapisal S, Cullup T, Nyanhete R, Ashton E, Murphy C, Clarke M, Ahlfors H, Jenkins L, Gilmour K, Eleftheriou D, Lachmann HJ, Hawkins PN, Klein N, Brogan PA.
                Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
                PLoS One. 2017 Jul 27;12(7):e0181874. doi: 10.1371/journal.pone.0181874. eCollection 2017.
                https://www.ncbi.nlm.nih.gov/pubmed/28750028
 
JUNIO 2017
              • Taddio A, Zennaro F, Pastore S, Cimaz R.
                An Update on the Pathogenesis and Treatment of Chronic Recurrent Multifocal Osteomyelitis in Children.
                Paediatr Drugs. 2017 Jun;19(3):165-172.
                https://www.ncbi.nlm.nih.gov/pubmed/28401420
              • Kuemmerle-Deschner JB, Ozen S, Tyrrell PN, Kone-Paut I, Goldbach-Mansky R, Lachmann H, Blank N, Hoffman HM, Weissbarth-Riedel E, Hugle B, Kallinich T, Gattorno M, Gul A, Ter Haar N, Oswald M, Dedeoglu F, Cantarini L, Benseler SM.
                Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS).
                Ann Rheum Dis. 2017 Jun;76(6):942-947
                https://www.ncbi.nlm.nih.gov/pubmed/27707729
              • Kone-Paut I, Quartier P, Fain O, Grateau G, Pillet P, Le Blay P, Bonnet F, Despert V, Stankovic-Stojanovic K, Willemin L, Quéré S, Reigneau O, Hachulla E.
                Real-World Experience and Impact of Canakinumab in Cryopyrin-Associated Periodic Syndrome: Results From a French Observational Study.
                Arthritis Care Res (Hoboken). 2017 Jun;69(6):903-911.
                https://www.ncbi.nlm.nih.gov/pubmed/27635935
              • Manthiram K, Li SC, Hausmann JS, Amarilyo G, Barron K, Kim H, Nativ S, Lionetti G, Zeft A, Goldsmith D, Kimberlin D, Edwards K, Dedeoglu F, Lapidus S; Childhood Arthritis and Rheumatology Research Alliance (CARRA) PFAPA Subcommittee.
                Physicians' perspectives on the diagnosis and management of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.
                Rheumatol Int. 2017 Jun;37(6):883-889.
                https://www.ncbi.nlm.nih.gov/pubmed/28271158
 
MAYO 2017
              • Caorsi R, Penco F, Grossi A, Insalaco A, Omenetti A, Alessio M, Conti G, Marchetti F, Picco P, Tommasini A, Martino S, Malattia C, Gallizi R, Podda RA, Salis A, Falcini F, Schena F, Garbarino F, Morreale A, Pardeo M, Ventrici C, Passarelli C, Zhou Q, Severino M, Gandolfo C, Damonte G, Martini A, Ravelli A, Aksentijevich I, Ceccherini , Gattorno M.
                ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.
                Ann Rheum Dis. 2017 May 18 [Epub ahead of print]
                https://www.ncbi.nlm.nih.gov/pubmed/28522451
              • Kuemmerle-Deschner JB, Ozen S, Tyrrell PN, Kone-Paut I, Goldbach-Mansky R, Lachmann H, Blank N, Hoffman HM, Weissbarth-Riedel E, Hugle B, Kallinich T, Gattorno M, Gul A, Ter Haar N, Oswald M, Dedeoglu F, Cantarini L, Benseler SM.
                Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS).
                Ann Rheum Dis. 2017 Jun;76(6):942-947. doi: 10.1136/annrheumdis-2016-209686. Epub 2016 Oct 4. Review.
                https://www.ncbi.nlm.nih.gov/pubmed/27707729
              • Kone-Paut I, Quartier P, Fain O, Grateau G, Pillet P, Le Blay P, Bonnet F, Despert V, Stankovic-Stojanovic K, Willemin L, Quéré S, Reigneau O, Hachulla E.
                Real-World Experience and Impact of Canakinumab in Cryopyrin-Associated Periodic Syndrome: Results From a French Observational Study.
                Arthritis Care Res (Hoboken). 2017 Jun;69(6):903-911. doi: 10.1002/acr.23083.
                https://www.ncbi.nlm.nih.gov/pubmed/?term=27635935
              • Manthiram K, Lapidus S, Edwards K.
                Unraveling the pathogenesis of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis through genetic, immunologic, and microbiologic discoveries: an update.
                Curr Opin Rheumatol. 2017 May 26. doi: 10.1097/BOR.0000000000000418. [Epub ahead of print]
                https://www.ncbi.nlm.nih.gov/pubmed/28557837
              • Mirouse A, Barete S, Monfort JB, Resche-Rigon M, Bouyer AS, Comarmond C, Sène D, Domont F, Ferfar Y, Cacoub P, Saadoun D.
                Ustekinumab for Behçet's disease.
                J Autoimmun. 2017 May 5. pii: S0896-8411(17)30142-7. doi: 10.1016/j.jaut.2017.05.002. [Epub ahead of print]
                https://www.ncbi.nlm.nih.gov/pubmed/28483439
              • Ariza Jiménez AB, Núñez Cuadros E, Galindo Zavala R, Núñez Caro L, Díaz-Cordobés Rego G, Urda Cardona A.
                Recurrent multifocal osteomyelitis in children: Experience in a tertiary care center.
                Reumatol Clin. 2017 May 19. [Epub ahead of print]
                https://www.ncbi.nlm.nih.gov/pubmed/?term=28528870
              • Nikiphorou E, Neocleous V, Phylactou LA, Psarelis S.
                Successful use of tocilizumab in two cases of severe autoinflammatory disease with a single copy of the Mediterranean fever gene.
                Rheumatology (Oxford). 2017 May 9. [Epub ahead of print]
                https://www.ncbi.nlm.nih.gov/pubmed/?term=28486679
              • Sahin S, Adrovic A, Barut K, Ugurlu S, Turanli ET, Ozdogan H, Kasapcopur O.
                Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency.
                Rheumatol Int. 2017 May 17. [Epub ahead of print]
                https://www.ncbi.nlm.nih.gov/pubmed/?term=28516235
              • Gentileschi S, Rigante D, Vitale A, Sota J, Frediani B, Galeazzi M, Cantarini L.
                Efficacy and safety of anakinra in tumor necrosis factor receptor-associated periodic syndrome (TRAPS) complicated by severe renal failure: a report after long-term follow-up and review of the literature.
                Clin Rheumatol. 2017 May 23. doi: 10.1007/s10067-017-3688-4. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/28536823
 
ABRIL 2017
              • Martorana D, Bonatti F, Mozzoni P, Vaglio A, Percesepe A.
                Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations
                Front Immunol. 2017 Apr 3;8:344. doi: 10.3389/fimmu.2017.00344. eCollection 2017. Review.
                https://www.ncbi.nlm.nih.gov/pubmed/28421071
              • Taddio A, Zennaro F, Pastore S, Cimaz R.
                An Update on the Pathogenesis and Treatment of Chronic Recurrent Multifocal Osteomyelitis in Children
                Paediatr Drugs. 2017 Apr 11. doi: 10.1007/s40272-017-0226-4. [Epub ahead of print]
                https://www.ncbi.nlm.nih.gov/pubmed/28401420
 
MARZO 2017
              • Ter Haar NM, Annink KV, Al-Mayouf SM, Amaryan G, Anton J, Barron KS, Benseler SM, Brogan PA, Cantarini L, Cattalini M, Cochino AV, De Benedetti F, Dedeoglu F, De Jesus AA, Della Casa Alberighi O, Demirkaya E, Dolezalova P, Durrant KL, Fabio G, Gallizzi R, Goldbach-Mansky R, Hachulla E, Hentgen V, Herlin T, Hofer M, Hoffman HM, Insalaco A, Jansson AF, Kallinich T, Koné-Paut I, Kozlova A, Kuemmerle-Deschner JB, Lachmann HJ, Laxer RM, Martini A, Nielsen S, Nikishina I, Ombrello AK, Ozen S, Papadopoulou-Alataki E, Quartier P, Rigante D, Russo R, Simon A, Trachana M, Uziel Y, Ravelli A, Gattorno M, Frenkel J.
                Development of the autoinflammatory disease damage index (ADDI).
                Ann Rheum Dis. 2017 May;76(5):821-830. doi: 10.1136/annrheumdis-2016-210092
                https://www.ncbi.nlm.nih.gov/pubmed/27811147
              • Ben-Zvi I, Kukuy O, Giat E, Pras E, Feld O, Kivity S, Perski O, Bornstein G, Grossman C, Harari G, Lidar M, Livneh MA
                Anakinra for Colchicine-Resistant Familial Mediterranean Fever: A Randomized, Double-Blind, Placebo-Controlled Trial.
                Arthritis Rheumatol 2017 Apr;69(4):854–62 DOI: 10.1002/art.39995.
                http://onlinelibrary.wiley.com/doi/10.1002/art.39995/abstract
              • Cox AJ, Zhao Y, Ferguson PJ.
                Chronic Recurrent Multifocal Osteomyelitis and Related Diseases-Update on Pathogenesis.
                Curr Rheumatol Rep. 2017 Apr;19(4):18. doi: 10.1007/s11926-017-0645-9.
                https://www.ncbi.nlm.nih.gov/pubmed/28361334
              • Sönmez HE, Özen S.
                Clinical update on inflammasomopathies.
                Int Immunol. 2017 Apr 6. doi: 10.1093/intimm/dxx020.
                https://www.ncbi.nlm.nih.gov/pubmed/28387826
              • Özen S, Batu ED, Demir S.
                Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management.
                Front Immunol. 2017 Mar 23;8:253. doi: 10.3389/fimmu.2017.00253.
                https://www.ncbi.nlm.nih.gov/pubmed/28386255
              • Manthiram K, Li SC, Hausmann JS, Amarilyo G, Barron K, Kim H, Nativ S, Lionetti G, Zeft A, Goldsmith D, Kimberlin D, Edwards K, Dedeoglu F, Lapidus S; Childhood Arthritis and Rheumatology Research Alliance (CARRA) PFAPA Subcommittee.
                Physicians' perspectives on the diagnosis and management of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.
                Rheumatol Int. 2017 Mar 7. doi: 10.1007/s00296-017-3688-3.
                https://www.ncbi.nlm.nih.gov/pubmed/28271158
              • Grayson PC, Yazici Y, Merideth M, Sen HN, Davis M, Novakovich E, Joyal E, Goldbach-Mansky R, Sibley CH
                Treatment of mucocutaneous manifestations in Behçet's disease with anakinra: a pilot open-label study.
                Arthritis Res Ther. 2017 Mar 24;19(1):69. doi: 10.1186/s13075-017-1222-3.
                https://www.ncbi.nlm.nih.gov/pubmed/28335798
              • Vinkel C, Thomsen SF.
                Autoinflammatory syndromes associated with hidradenitis suppurativa and/or acne.
                Int J Dermatol. 2017 Mar 27. doi: 10.1111/ijd.13603.
                https://www.ncbi.nlm.nih.gov/pubmed/28345207
 
FEBRERO 2017
              • Cheung MS, Theodoropoulou K, Lugrin J, Martinon F, Busso N, Hofer M.
                Periodic Fever with Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome Is Associated with a CARD8 Variant Unable To Bind the NLRP3 Inflammasome.
                J Immunol. 2017 Mar 1;198(5):2063-2069. doi: 10.4049/jimmunol.1600760. Epub 2017 Jan 30.
                https://www.ncbi.nlm.nih.gov/pubmed/28137891
              • Sahin Y, Adrovic A, Barut K, Kutlu T, Cullu-Cokugras F, Sahin S, Kasapcopur O, Erkan T.
                The frequency of the celiac disease among children with familial Mediterranean fever.
                Mod Rheumatol. 2017 Feb 2:1-11. doi: 10.1080/14397595.2016.1270497. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/28151032
              • Hu J, Zhu Y, Zhang JZ, Zhang RG, Li HM.
                A Novel Mutation in the Pyrin Domain of the NOD-like Receptor Family Pyrin Domain Containing Protein 3 in Muckle-Wells Syndrome.
                Chin Med J (Engl). 2017 5th Mar;130(5):586-593. doi: 10.4103/0366-6999.200537.
                https://www.ncbi.nlm.nih.gov/pubmed/28229991
              • Mamoudjy N, Maurey H, Marie I, Koné-Paut I, Deiva K.
                Neurological outcome of patients with cryopyrin-associated periodic syndrome (CAPS).
                Orphanet J Rare Dis. 2017 Feb 14;12(1):33. doi: 10.1186/s13023-017-0589-1.
                https://www.ncbi.nlm.nih.gov/pubmed/28196516
              • Kukuy O, Livneh A, Mendel L, Benor A, Giat E, Perski O, Feld O, Kassel Y, Ben-Zvi I, Lidar M, Holtzman EJ, Leiba A.
                Normal arterial stiffness in familial Mediterranean fever: evidence for a possible cardiovascular protective role of colchicine.
                Clin Exp Rheumatol. 2017 Feb 9. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/28229824
              • Sandhya P, Vellarikkal SK, Nair A, Ravi R, Mathew J, Jayarajan R, Kumar A, Verma A, Sivadas A, Danda D, Sivasubbu S, Scaria V.
                Egyptian tale from India: application of whole-exome sequencing in diagnosis of atypical familial Mediterranean fever.
                Int J Dermatol. 2017 Feb 14. doi: 10.1111/ijd.13503. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/28194777
              • Vural S, Gundogdu M, Kundakci N, Ruzicka T.
                Familial Mediterranean fever patients with hidradenitis suppurativa.
                Chin Med J (Engl). 2017 5th Mar;130(5):586-593. doi: 10.4103/0366-6999.200537.
                https://www.ncbi.nlm.nih.gov/pubmed/28229991
              • Esaki M, Kawano S, Matsumoto T.
                A rare cause of duodenojejunal pseudopolyposis: Report of a case of adult-onset familial Mediterranean fever.
                Dig Endosc. 2017 Feb 9. doi: 10.1111/den.12843. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/28181703
              • Wada T, Toma T, Matsuda Y, Yachie A, Itami S, Taguchi Y, Murakami Y.
                Microarray analysis of circulating microRNAs in familial Mediterranean fever.
                Mod Rheumatol. 2017 Feb 6:1-18. doi: 10.1080/14397595.2017.1285845. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/28165838
              • Vitale A, Rigante D, Lucherini OM, De Palma A, Orlando I, Gentileschi S, Sota J, Simpatico A, Fabiani C, Galeazzi M, Frediani B, Cantarini L.
                The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy.
                Intern Emerg Med. 2017 Feb 13. doi: 10.1007/s11739-017-1622-z. [Epub ahead of print]https://www.ncbi.nlm.nih.gov/pubmed/28194697
ENERO 2017
              • Rowczenio DM1, Iancu DS2, Trojer H3, Gilbertson JA3, Gillmore JD3, Wechalekar AD3, Tekman M2, Stanescu HC2, Kleta R2, Lane T3, Hawkins PN3, Lachmann HJ3.
                 Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration.
                Rheumatology (Oxford). 2017 Feb;56(2):209-213. doi: 10.1093/rheumatology/kew058. Epub 2016 May 5.
                https://www.ncbi.nlm.nih.gov/pubmed/27150194
              • Laskari K, Boura P, Dalekos GN, Garyfallos A, Karokis D, Pikazis D, Settas L, Skarantavos G, Tsitsami E, Sfikakis PP.
                 Longterm Beneficial Effect of Canakinumab in Colchicine-resistant Familial Mediterranean Fever.
                 J Rheumatol. 2017 Jan;44(1):102-109. doi: 10.3899/jrheum.160518. Epub 2016 Nov 15.
                https://www.ncbi.nlm.nih.gov/pubmed/28042127
DICIEMBRE 2016
              • Gattorno M, Obici L, Cattalini M, Tormey V, Abrams K, Davis N, Speziale A, Bhansali SG, Martini A, Lachmann HJ.
                Canakinumab treatment for patients with active recurrent or chronic TNF receptor-associated periodic syndrome (TRAPS): an open-label, phase II study.
                Ann Rheum Dis. 2017 Jan;76(1):173-178.
                https://www.ncbi.nlm.nih.gov/pubmed/27269295
              • Torene R, Nirmala N, Obici L, Cattalini M, Tormey V, Caorsi R, Starck-Schwertz S, Letzkus M, Hartmann N, Abrams K, Lachmann H, Gattorno M.
                Canakinumab reverses overexpression of inflammatory response genes in tumour necrosis factor receptor-associated periodic syndrome.
                Ann Rheum Dis. 2017 Jan;76(1):303-309.
                https://www.ncbi.nlm.nih.gov/pubmed/27474763
              • Damiani G, Della Valle V, Iannone M, Dini V, Marzano AV.
                Autoinflammatory Disease Damage Index (ADDI): a possible newborn also in hidradenitis suppurativa daily practice.
                Ann Rheum Dis. 2016 Dec 23.
                https://www.ncbi.nlm.nih.gov/pubmed/28011453
              • Grandemange S, Sanchez E, Louis-Plence P, Tran Mau-Them F, Bessis D, Coubes C, Frouin E, Seyger M, Girard M, Puechberty J, Costes V, Rodière M, Carbasse A, Jeziorski E, Portales P, Sarrabay G, Mondain M, Jorgensen C, Apparailly F, Hoppenreijs E, Touitou I, Geneviève D.
                A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).
                Ann Rheum Dis. 2016 Dec 13.
                https://www.ncbi.nlm.nih.gov/pubmed/27965258
              • Gohar F, Orak B, Kallinich T, Jeske M, Lieber M, von Bernuth H, Giese A, Weissbarth-Riedel E, Haas JP, Dressler F, Holzinger D, Lohse P, Neudorf U, Lainka E, Hinze C, Masjosthusmann K, Kessel C, Weinhage T, Foell D, Wittkowski H.
                Correlation of Secretory Activity of Neutrophils With Genotype in Patients With Familial Mediterranean Fever.
                Arthritis Rheumatol. 2016 Dec;68(12):3010-3022.
                https://www.ncbi.nlm.nih.gov/pubmed/27333294
              • Mensa-Vilaro A, Teresa Bosque M, Magri G, Honda Y, Martínez-Banaclocha H, Casorran-Berges M, Sintes J, González-Roca E, Ruiz-Ortiz E, Heike T, Martínez-Garcia JJ, Baroja-Mazo A, Cerutti A, Nishikomori R, Yagüe J, Pelegrín P, Delgado-Beltran C, Aróstegui JI.
                Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism.
                Arthritis Rheumatol. 2016 Dec;68(12):3035-3041.
                https://www.ncbi.nlm.nih.gov/pubmed/27273849
              • Batu ED, Kara Eroğlu F, Tsoukas P, Hausmann JS, Bilginer Y, Kenna MA, Licameli GR, Fuhlbrigge RC, Özen S, Dedeoğlu F.
                Periodic Fever, Aphthosis, Pharyngitis, and Adenitis Syndrome: Analysis of Patients From Two Geographic Areas.
                Arthritis Care Res (Hoboken). 2016 Dec;68(12):1859-1865.
                https://www.ncbi.nlm.nih.gov/pubmed/27059542
              • Shumpei Y, Imagawa T, Nishikomori R, Takada H, Abrams K, Lheritier K, Heike T, Hara T.
                Long-term safety and efficacy of canakinumab in cryopyrin-associated periodic syndrome: results from an open-label, phase III pivotal study in Japanese patients.
                Clin Exp Rheumatol. 2016 Dec 14.
                https://www.ncbi.nlm.nih.gov/pubmed/27974104
              • Schnabel A, Range U, Hahn G, Siepmann T, Berner R, Hedrich CM.
                Unexpectedly high incidences of chronic non-bacterial as compared to bacterial osteomyelitis in children.
                Rheumatol Int. 2016 Dec;36(12):1737-1745.
                https://www.ncbi.nlm.nih.gov/pubmed/27730289
 
NOVIEMBRE 2016
              • Touitou I, Sarrabay G.
                Criteria for CAPS, is it all in the name?
                Ann Rheum Dis. 2016 Nov 16.
                https://www.ncbi.nlm.nih.gov/pubmed/27852576
              • Ter Haar NM, Annink KV, Al-Mayouf SM, Amaryan G, Anton J, Barron KS, Benseler SM, Brogan PA, Cantarini L, Cattalini M, Cochino AV, De Benedetti F, Dedeoglu F, De Jesus AA, Della Casa Alberighi O, Demirkaya E, Dolezalova P, Durrant KL, Fabio G, Gallizzi R, Goldbach-Mansky R, Hachulla E, Hentgen V, Herlin T, Hofer M, Hoffman HM, Insalaco A, Jansson AF, Kallinich T, Koné-Paut I, Kozlova A, Kuemmerle-Deschner JB, Lachmann HJ, Laxer RM, Martini A, Nielsen S, Nikishina I, Ombrello AK, Ozen S, Papadopoulou-Alataki E, Quartier P, Rigante D, Russo R, Simon A, Trachana M, Uziel Y, Ravelli A, Gattorno M, Frenkel J.
                Development of the autoinflammatory disease damage index (ADDI).
                Ann Rheum Dis. 2016 Nov 3.
                https://www.ncbi.nlm.nih.gov/pubmed/27811147
              • Ter Haar NM, Jeyaratnam J, Lachmann HJ, Simon A, Brogan PA, Doglio M, Cattalini M, Anton J, Modesto C, Quartier P, Hoppenreijs E, Martino S, Insalaco A, Cantarini L, Lepore L, Alessio M, Calvo Penades I, Boros C, Consolini R, Rigante D, Russo R, Pachlopnik Schmid J, Lane T, Martini A, Ruperto N, Frenkel J, Gattorno M; Paediatric Rheumatology International Trials Organisation and Eurofever Project..
                The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.
                Arthritis Rheumatol. 2016 Nov;68(11):2795-2805.
                https://www.ncbi.nlm.nih.gov/pubmed/27213830
              • Ben-Zvi I, Kukuy O, Giat E, Pras E, Feld O, Kivity S, Lecturer S, Perski O, Bornstein G, Grossman C, Harari G, Lidar M, Livneh A.
                Anakinra for colchicine resistant familial Mediterranean fever - A randomized, double blind, placebo-controlled trial.
                Arthritis Rheumatol. 2016 Nov 11.
                https://www.ncbi.nlm.nih.gov/pubmed/27860460
              • Ueda N, Ida H, Washio M, Miyahara H, Tokunaga S, Tanaka F, Takahashi H, Kusuhara K, Ohmura K, Nakayama M, Ohara O, Nishikomori R, Minota S, Takei S, Fujii T, Ishigatsubo Y, Tsukamoto H, Tahira T, Horiuchi T.
                Clinical and Genetic Features of Patients With TNFRSF1A Variants in Japan: Findings of a Nationwide Survey.
                Arthritis Rheumatol. 2016 Nov;68(11):2760-2771.
                https://www.ncbi.nlm.nih.gov/pubmed/27332769
              • Haviv R, Hashkes PJ.
                Canakinumab investigated for treating familial Mediterranean fever.
                Expert Opin Biol Ther. 2016 Nov;16(11):1425-1434.
                https://www.ncbi.nlm.nih.gov/pubmed/27603969
              • Aksentijevich I, McDermott MF.
                Lessons from characterization and treatment of the autoinflammatory syndromes.
                Curr Opin Rheumatol. 2016 Nov 30.
                https://www.ncbi.nlm.nih.gov/pubmed/27906774
 
OCTUBRE 2016
              • Konukbay D, Gattorno M, Yildiz D, Frenkel J, Acikel C, Sozeri B, Makay B, Aktay Ayaz N, Barut K, Kisaarslan A, Bilginer Y, Karaman D, Peru H, Simsek D, Aydog O, Unsal E, Gunduz Z, Fidanci BE, Kone-Paut I, Kasapcopur O, Ravelli A, Ozen S, Demirkaya E; and the FMF Arthritis Vasculitis and Orphan disease Research in Paediatric Rheumatology.
                A novel assessment tool for clinical care of patients with autoinflammatory disease: juvenile autoinflammatory disease multidimensional assessment report.
                Clin Exp Rheumatol. 2016 Sep-Oct;34 Suppl 102(6):129-135
                https://www.ncbi.nlm.nih.gov/pubmed/27791950
              • Ter Haar NM, Jeyaratnam J, Lachmann HJ, Simon A, Brogan PA, Doglio M, Cattalini M, Anton J, Modesto C, Quartier P, Hoppenreijs E, Martino S, Insalaco A, Cantarini L, Lepore L, Alessio M, Calvo Penades I, Boros C, Consolini R, Rigante D, Russo R, Pachlopnik Schmid J, Lane T, Martini A, Ruperto N, Frenkel J, Gattorno M; Paediatric Rheumatology International Trials Organisation and Eurofever Project.
                The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry
                Arthritis Rheumatol. 2016 Nov;68(11):2795-2805.
                https://www.ncbi.nlm.nih.gov/pubmed/27213830
              • Schnabel A, Range U, Hahn G, Siepmann T, Berner R, Hedrich CM.
                Unexpectedly high incidences of chronic non-bacterial as compared to bacterial osteomyelitis in children
                Rheumatol Int. 2016 Oct 11
                https://www.ncbi.nlm.nih.gov/pubmed/27730289 
 
SEPTIEMBRE 2016
              • Ozen S, Kuemmerle-Deschner JB, Cimaz R, Livneh A, Quartier P, Kone-Paut I, Zeft A, Spalding S, Gul A, Hentgen V, Savic S, Foeldvari I, Frenkel J, Cantarini L, Patel D, Weiss J, Marinsek N, Degun R, Lomax KG, Lachmann HJ.
                International retrospective chart review of treatment patterns in severe FMF, TRAPS and MKD/HIDS.
                Arthritis Care Res (Hoboken). 2016 Oct 9.
                https://www.ncbi.nlm.nih.gov/pubmed/27723279
              • Kuemmerle-Deschner JB, Ozen S, Tyrrell PN, Kone-Paut I, Goldbach-Mansky R, Lachmann H, Blank N, Hoffman HM, Weissbarth-Riedel E, Hugle B, Kallinich T, Gattorno M, Gul A, Ter Haar N, Oswald M, Dedeoglu F, Cantarini L, Benseler SM.
                Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS).
                Ann Rheum Dis. 2016 Oct 4.
                https://www.ncbi.nlm.nih.gov/pubmed/27707729
              • Xirotagaros G, Hernández-Ostiz S, Aróstegui JI, Torrelo A.
                Newly Described Autoinflammatory Diseases in Pediatric Dermatology.
                Pediatr Dermatol. 2016 Oct 4. doi: 10.1111/pde.12984.
                https://www.ncbi.nlm.nih.gov/pubmed/27699831
              • Varma R, Campbell G, Baxendale H.
                Lesson of the month 1: Autoinflammatory syndromes - an unusual cause of pyrexia of unknown origin.
                Clin Med (Lond). 2016 Oct;16(5):488-490.
                https://www.ncbi.nlm.nih.gov/pubmed/27697817
              • Vitale A, Emmi G, Lopalco G, Gentileschi S, Silvestri E, Fabiani C, Urban ML, Frediani B, Galeazzi M, Iannone F, Rigante D, Cantarini L.
                Adalimumab effectiveness in Behçet's disease: short and long-term data from a multicenter retrospective observational study.
                Clin Rheumatol. 2016 Sep 27. [Epub ahead of print] https://www.ncbi.nlm.nih.gov/pubmed/27679471
              • Kim H, Sanchez GA, Goldbach-Mansky R.
                Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus.
                J Mol Med (Berl). 2016 Oct;94(10):1111-1127.
                https://www.ncbi.nlm.nih.gov/pubmed/27678529
              • Beheshtian M, Izadi N, Kriegshauser G, Kahrizi K, Mehr EP, Rostami M, Hosseini M, Azad M, Montajabiniat M, Kariminejad A, Nemeth S, Oberkanins C, Najmabadi H.
                Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.
                J Genet. 2016 Sep;95(3):667-74.
                https://www.ncbi.nlm.nih.gov/pubmed/27659338
              • Krause K, Tsianakas A, Wagner N, Fischer J, Weller K, Metz M, Church MK, Maurer M.
                Efficacy and safety of canakinumab in Schnitzler's syndrome: a multi-center randomized placebo-controlled study.
                J Allergy Clin Immunol. 2016 Sep 19.
                https://www.ncbi.nlm.nih.gov/pubmed/27658762 
              • Ostring GT, Singh-Grewal D.
                Periodic fevers and autoinflammatory syndromes in childhood.
                J Paediatr Child Health. 2016 Sep;52(9):865-71.
                https://www.ncbi.nlm.nih.gov/pubmed/27650143
              • Pathak S, McDermott MF, Savic S.
                Autoinflammatory diseases: update on classification diagnosis and management.
                J Clin Pathol. 2016 Sep 19. [Epub ahead of print] https://www.ncbi.nlm.nih.gov/pubmed/27646526
              • Caorsi R, Penco F, Schena F, Gattorno M.
                Monogenic polyarteritis: the lesson of ADA2 deficiency.
                Pediatr Rheumatol Online J. 2016 Sep 8;14(1):51.
                https://www.ncbi.nlm.nih.gov/pubmed/27609179
              • Ben-Ami T, Revel-Vilk S, Brooks R, Shaag A, Hershfield MS, Kelly SJ, Ganson NJ, Kfir-Erenfeld S, Weintraub M, Elpeleg O, Berkun Y, Stepensky P.
                Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.
                J Pediatr. 2016 Oct;177:316-20.
                https://www.ncbi.nlm.nih.gov/pubmed/27514238
 
AGOSTO 2016
              • Wekell P, Karlsson A, Berg S, Fasth A.
                Review of autoinflammatory diseases, with a special focus on periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome.
                Acta Paediatr. 2016 Oct;105(10):1140-51.
                http://www.ncbi.nlm.nih.gov/pubmed/27426283
              • Caorsi R, Penco F, Schena F, Gattorno M.
                Monogenic polyarteritis: the lesson of ADA2 deficiency.
                Pediatr Rheumatol Online J. 2016 Sep 8;14(1):51.
                http://www.ncbi.nlm.nih.gov/pubmed/27609179
              • Kone-Paut I, Quartier P, Fain O, Grateau G, Pillet P, Le Blay P, Bonnet F, Despert V, Stojanovic KS, Willemin L, Quéré S, Reigneau O, Hachulla E.
                Real-world experience and impact of Canakinumab in cryopyrin-associated periodic syndrome: Results from the French observational study ENVOL.
                Arthritis Care Res (Hoboken). 2016 Sep 16. doi: 10.1002/acr.23083. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/27635935
              • Shen M, Tang L, Shi X, Zeng X, Yao Q.
                NLRP12 autoinflammatory disease: a Chinese case series and literature review.
                Clin Rheumatol. 2016 Sep 16. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/27633793  
              • Zhou Q, Yu X, Demirkaya E, Deuitch N, Stone D, Tsai WL, Kuehn HS, Wang H, Yang D, Park YH, Ombrello AK, Blake M, Romeo T, Remmers EF, Chae JJ, Mullikin JC, Güzel F, Milner JD, Boehm M, Rosenzweig SD, Gadina M, Welch SB, Özen S, Topaloglu R, Abinun M, Kastner DL, Aksentijevich I.
                Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onsetautoinflammatory disease.
                Proc Natl Acad Sci U S A. 2016 Sep 6;113(36):10127-32.
                http://www.ncbi.nlm.nih.gov/pubmed/27559085
              • Hofmann SR, Schnabel A, Rösen-Wolff A, Morbach H, Girschick HJ, Hedrich CM.
                Chronic Nonbacterial Osteomyelitis: Pathophysiological Concepts and Current Treatment Strategies.
                J Rheumatol. 2016 Sep 1. pii: jrheum.160256. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/27585682
              • Roderick MR, Shah R, Rogers V, Finn A, Ramanan AV.
                Chronic recurrent multifocal osteomyelitis (CRMO) - advancing the diagnosis.
                Pediatr Rheumatol Online J. 2016 Aug 30;14(1):47.
                http://www.ncbi.nlm.nih.gov/pubmed/27576444
              • Rusmini M, Federici S, Caroli F, et al.
                Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases
                Ann Rheum Dis 2016;75:1550-1557
                http://ard.bmj.com/content/75/8/1550.abstract
              • König N, Fiehn C, Wolf C, Schuster M, Cura Costa E, Tüngler V, Alvarez HA, Chara O, Engel K, Goldbach-Mansky R, Günther C, Lee-Kirsch MA.
                Familial chilblain lupus due to a gain-of-function mutation in STING.
                Ann Rheum Dis. 2016 Aug 26. pii: annrheumdis-2016-209841. doi: 10.1136/annrheumdis-2016-209841. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/27566796
              • Torrelo A, Noguera-Morel L, Hernández-Martín A, Clemente D, Barja JM, Buzón L, Azorín D, de Jesús AA, López-Robledillo JC, Colmenero I, Kutzner H, Goldbach-Mansky R, Requena L.
                Recurrent lipoatrophic panniculitis of children.
                J Eur Acad Dermatol Venereol. 2016 Aug 12. doi: 10.1111/jdv.13858. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/27515780
              • Tran T, Moloney T, Adams MK, Shah SP.
                Autoinflammatory retinopathy in chronic infantile neurological cutaneous and articular (CINCA) syndrome.
                J AAPOS. 2016 Aug;20(4):365-8. 
                http://www.ncbi.nlm.nih.gov/pubmed/27320017
              • Ben-Ami T, Revel-Vilk S, Brooks R, Shaag A, Hershfield MS, Kelly SJ, Ganson NJ, Kfir-Erenfeld S, Weintraub M, Elpeleg O, Berkun Y, Stepensky P.
                Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.
                J Pediatr. 2016 Aug 8. pii: S0022-3476(16)30487-5. doi: 10.1016/j.jpeds.2016.06.058. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/27514238
              • Frémond ML,Rodero MP,Jeremiah N, et al.
                Efficacy of the Janus Kinase 1/2 Inhibitor Ruxolitinib in the Treatment of Vasculopathy Associated with TMEM173-Activating Mutations in three children.
                2016 Aug 20. pii: S0091-6749(16)30797-7. doi: 10.1016/j.jaci.2016.07.015. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/27554814
              • Ginsberg S, Rosner I, Rozenbaum M, Slobodin G, Zilber K, Boulman N, Kaly L, Awisat A, Jiries N, Beyar-Katz O, Rimar D.
                Autoinflammatory associated vasculitis.
                Semin Arthritis Rheum. 2016 Jul 20. pii: S0049-0172(16)30122-6. doi: 10.1016/j.semarthrit.2016.07.007. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/27612399
              • Vento-Tormo R, Álvarez-Errico D, Garcia-Gomez A, Hernández-Rodríguez J, Buján S, Basagaña M, Méndez M, Yagüe J, Juan M, Aróstegui JI, Ballestar E.
                DNA demethylation of inflammasome-associated genes is enhanced in patients with cryopyrin-associated periodic syndromes.
                J Allergy Clin Immunol. 2016 Jul 6. pii: S0091-6749(16)30424-9. doi: 10.1016/j.jaci.2016.05.016. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/27394913
 
JULIO 2016
              • Ben-Chetrit E, Yazici H.
                Non-thrombocytopenic purpura in familial Mediterranean fever-comorbidity with Henoch-Schönlein purpura or an additional rare manifestation of familial Mediterranean fever?
                Rheumatology (Oxford). 2016 Jul;55(7):1153-8. doi: 10.1093/rheumatology/kev378. Epub 2015 Oct 13.
                http://www.ncbi.nlm.nih.gov/pubmed/26464521 
              • Topaloglu R, Batu ED, Yıldız Ç, Korkmaz E, Özen S, Beşbaş N, Özaltın F.
                Familial Mediterranean fever patients homozygous for E148Q variant.
                Int J Rheum Dis. 2016 Jul 26. doi: 10.1111/1756-185X.12929. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/27457448
              • Gattorno M, Obici L, Cattalini M, Tormey V, Abrams K, Davis N, Speziale A, Bhansali SG, Martini A, Lachmann HJ.
                Canakinumab treatment for patients with active recurrent or chronic TNF receptor-associated periodic syndrome (TRAPS): an open-label, phase II study.
                Ann Rheum Dis. 2016 Jun 7. pii: annrheumdis-2015-209031. doi: 10.1136/annrheumdis-2015-209031. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/27269295
              • Omenetti A, Carta S, Caorsi R, Finetti M, Marotto D, Lattanzi B, Jorini M, Delfino L, Penco F, Picco P, Buoncompagni A, Martini A, Rubartelli A, Gattorno M.
                Disease activity accounts for long-term efficacy of IL-1 blockers in pyogenic sterile arthritis pyoderma gangrenosum and severe acne syndrome.
                Rheumatology (Oxford). 2016 Jul;55(7):1325-35. doi: 10.1093/rheumatology/kew031. Epub 2016 Mar 17.
                http://www.ncbi.nlm.nih.gov/pubmed/26989109
 
JUNIO 2016
              • Vanoni F, Theodoropoulou K, Hofer M
                PFAPA syndrome: a review on treatment and outcome.
                Pediatr Rheumatol Online J. 2016 Jun 27;14(1):38. doi: 10.1186/s12969-016-0101-9.
                http://www.ncbi.nlm.nih.gov/pubmed/27349388
              • Volpi S, Picco P, Caorsi R, Candotti F, Gattorno M.
                Type I interferonopathies in pediatric rheumatology.
                Pediatr Rheumatol Online J. 2016 Jun 4;14(1):35. doi: 10.1186/s12969-016-0094-4. Review
                http://www.ncbi.nlm.nih.gov/pubmed/27260006
              • Sobolewska B, Angermair E, Deuter C, Doycheva D, Kuemmerle-Deschner J, Zierhut M.
                NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms.
                J Rheumatol. 2016 Jun;43(6):1101-6. doi: 10.3899/jrheum.150681
                http://www.ncbi.nlm.nih.gov/pubmed/27134254
              • Imazio M, Adler Y, Charron P.
                Recurrent Pericarditis: Modern Approach in 2016.Curr Cardiol Rep. 2016 Jun;18(6):50. doi: 10.1007/s11886-016-0727-8. Review.
                http://www-ncbi-nlm-nih-gov.sire.ub.edu/pubmed/27108360
 
MAYO 2016
 
ABRIL 2016
              • Imazio M, Adler Y, Charron P.
                Recurrent Pericarditis: Modern Approach in 2016.
                Curr Cardiol Rep. 2016 Jun;18(6):50. doi: 10.1007/s11886-016-0727-8. Review.
                http://www-ncbi-nlm-nih-gov.sire.ub.edu/pubmed/27108360
              • Rigante D, Frediani B, Cantarini L.
                A Comprehensive Overview of the Hereditary Periodic Fever Syndromes.
                Clin Rev Allergy Immunol. 2016 Apr 11. [Epub ahead of print] Review.
                http://www-ncbi-nlm-nih-gov.sire.ub.edu/pubmed/27068928
              • Naselli A, Penco F, Cantarini L, Insalaco A, Alessio M, Tommasini A, Maggio C, Obici L, Gallizi R, Cimmino M, Signa S, Lucherini OM, Carta S, Caroli F, Martini A, Rubartelli A, Ceccherini I, Gattorno M.
                Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study.
                J Rheumatol. 2016 Apr 1. pii: jrheum.150962.
                http://www-ncbi-nlm-nih-gov.sire.ub.edu/pubmed/27036377
              • van der Hilst JCh, Moutschen M, Messiaen PE, Lauwerys BR, Vanderschueren S.
                Efficacy of anti-IL-1 treatment in familial Mediterranean fever: a systematic review of the literature.
                Biologics. 2016 Apr 4;10:75-80. doi: 10.2147/BTT.S102954. eCollection 2016.
                http://www-ncbi-nlm-nih-gov.sire.ub.edu/pubmed/27110096
              • Lachmann HJ, Brogan PA.
                Autoinflammation: When is familial Mediterranean fever 'severe'?
                Nat Rev Rheumatol. 2016 Apr 25;12(5):256-8. doi: 10.1038/nrrheum.2016.55. 
                http://www-ncbi-nlm-nih-gov.sire.ub.edu/pubmed/27108965
              • Batu ED, Eroğlu FK, Tsoukas P, Hausmann JS, Bilginer Y, Kenna MA, Licameli GR, Fuhlbrigge RC, Özen S, Dedeoğlu F.
                Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) syndrome: analysis of patients from two geographic areas.
                Arthritis Care Res (Hoboken). 2016 Apr 5. doi: 10.1002/acr.22901
                http://www-ncbi-nlm-nih-gov.sire.ub.edu/pubmed/27059542
              • Polat A, Acikel C, Sozeri B, Dursun I, Kasapcopur O, Gulez N, Simsek D, Saldir M, Dokurel I, Poyrazoglu H, Bakkaloglu S, Delibas A, Ekinci Z, Ayaz NA, Kandur Y, Peru H, Kurt YG, Polat SR, Unsal E, Makay B, Gok F, Ozen S, Demirkaya E; FMF Arthritis Vasculitis and Orphan Disease Research in Pediatric Rheumatology (FAVOR).
                Comparison of the efficacy of once- and twice-daily colchicine dosage in pediatric patients with familial Mediterranean fever - a randomized controlled noninferiority trial.
                Arthritis Res Ther. 2016 Apr 7;18(1):85. doi: 10.1186/s13075-016-0980-7.
                http://www-ncbi-nlm-nih-gov.sire.ub.edu/pubmed/27055417
              • Dusser P, Hentgen V, Neven B, Koné-Paut I.
                Is colchicine an effective treatment in periodic fever, aphtous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome?
                Joint Bone Spine. 2016 Apr 7. pii: S1297-319X(16)30005-7. doi: 10.1016/j.jbspin.2015.08.017
                http://www-ncbi-nlm-nih-gov.sire.ub.edu/pubmed/27068612
              • Nanthapisal S, Murphy C, Omoyinmi E, Hong Y, Standing A, Berg S, Ekelund M, Jolles S, Harper L, Youngstein T, Gilmour K, Klein N, Eleftheriou D, Brogan PA.
                Deficiency of adenosine deaminase type 2 (DADA2): A description of phenotype and genotype in 15 cases.
                Arthritis Rheumatol. 2016 Apr 5. doi: 10.1002/art.39699. [Epub ahead of print] http://www-ncbi-nlm-nih-gov.sire.ub.edu/pubmed/27059682
 
MARZO 2016
              • Hofmann SR, Kubasch AS, Range U, Laass MW, Morbach H, Girschick HJ, Hedrich CM.
                Serum biomarkers for the diagnosis and monitoring of chronic recurrent multifocal osteomyelitis (CRMO).
                Rheumatol Int. 2016 Mar 21. [Epub ahead of print]http://www.ncbi.nlm.nih.gov/pubmed/27000045
              • Durel CA, Aouba A, Bienvenu B, Deshayes S, Coppéré B, Gombert B, et al.
                Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency
                Medicine (Baltimore). 2016 Mar;95(11):e3027. doi: 10.1097/MD.0000000000003027.
                http://www.ncbi.nlm.nih.gov/pubmed/26986117
              • Koga T, Migita K, Kawakami A.
                Biologic therapy in familial Mediterranean fever.
                Mod Rheumatol. 2016 Mar 3:1-17. [Epub ahead of print]
                http://www.ncbi.nlm.nih.gov/pubmed/26939747
              • Parker T, Keddie S, Kidd D, Lane T, Maviki M, Hawkins PN, Lachmann HJ, Ginsberg L.
                Neurology of the cryopyrin-associated periodic fever syndrome.
                Eur J Neurol. 2016 Mar 2. doi: 10.1111/ene.12965. [Epub ahead of print]
                http://www.ncbi.nlm.nih.gov/pubmed/26931528
              • Lin DF, Yang WQ, Zhang PP, Lv Q, Jin O, Gu JR.
                Clinical and prognostic characteristics of 158 cases of relapsing polychondritis in China and review of the literature.
                Rheumatol Int. 2016 Mar 7. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/26951051
              • Buers I, Nitschke Y, Rutsch F.
                Novel interferonopathies associated with mutations in RIG-I like receptors.
                Cytokine Growth Factor Rev. 2016 Mar 11. pii: S1359-6101(16)30044-2. doi: 10.1016/j.cytogfr.2016.03.005. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/26993858
              • Hedrich CM
                Shaping the spectrum - From autoinflammation to autoimmunity.
                Clin Immunol. 2016 Mar 3;165:21-28. doi: 10.1016/j.clim.2016.03.002
                http://www.ncbi.nlm.nih.gov/pubmed/26948930
 
FEBRERO 2016
              • Lopalco G, Rigante D, Giannini M, Galeazzi M, Lapadula G, Iannone F, Cantarini L.
                Safety profile of anakinra in the management of rheumatologic, metabolic and autoinflammatory disorders.
                Clin Exp Rheumatol. 2016 Feb 26. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/26940286
              • Leuenberger M, Berner J, Di Lucca J, Fischer L, Kaparos N, Conrad C, Hohl D, So A, Gilliet M.
                PASS Syndrome: An IL-1-Driven Autoinflammatory Disease.
                Dermatology. 2016 Feb 27. [Epub ahead of print]
                http://www.ncbi.nlm.nih.gov/pubmed/26919742
              • Akiyama M.
                CARD14 alterations and psoriasis: are psoriasis and related disorders genetic autoinflammatory diseases?
                Br J Dermatol. 2016 Feb;174(2):262. doi: 10.1111/bjd.14258.
                http://www.ncbi.nlm.nih.gov/pubmed/26871918
              • Sönnichsen A, Saulite I, Mangana J, Kerl K, Mehra T, Desislava I, Chang YT, Petrausch U, Schmid-Grendelmeier P, Hoetzenecker W, Cozzio A,Guenova E.
                Interleukin-1 receptor antagonist (anakinra) for Schnitzler syndrome.
                J Dermatolog Treat. 2016 Feb 10:1-3. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/26864191
              • Kahlenberg JM.
                Anti-inflammatory panacea? The expanding therapeutics of interleukin-1 blockade.
                Curr Opin Rheumatol. 2016 Feb 8. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/26859478
              • Yang JA, Choi JY, Kang EH, Ha YJ, Lee YJ, Song YW.
                Clinical and Genetic Features of Korean Patients with Recurrent Fever and Multi-System Inflammation without Infectious or Autoimmune Evidence.
                J Korean Med Sci. 2016 Feb;31(2):196-201. doi: 10.3346/jkms.2016.31.2.196. Epub 2016 Jan 26.
                http://www.ncbi.nlm.nih.gov/pubmed/26839472
              • Almeida de Jesus A, Goldbach-Mansky R.
                Genetically defined autoinflammatory diseases.
                Oral Dis. 2016 Feb 2. doi: 10.1111/odi.12448. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/26837051
 
ENERO 2016
 
              • Demirkaya E, Acikel C, Hashkes P, Gattorno M, Gul A, Ozdogan H, Turker T, Karadag O, Livneh A, Ben-Chetrit E, Ozen S; FMF Arthritis Vasculitis and Orphan disease Research in pediatric rheumatology (FAVOR).
                Development and initial validation of international severity scoring system for familial Mediterranean fever (ISSF).
                Ann Rheum Dis. 2016 Jan 28. pii: annrheumdis-2015-208671. doi: 10.1136/annrheumdis-2015-208671. [Epub ahead of print] http://ard.bmj.com/content/early/2016/01/28/annrheumdis-2015-208671.abstract
              • Ozen S, Demirkaya E, Erer B, Livneh A, Ben-Chetrit E, Giancane G, Ozdogan H, Abu I, Gattorno M, Hawkins PN, Yuce S, Kallinich T, Bilginer Y, Kastner D, Carmona L.
                EULAR recommendations for the management of familial Mediterranean fever.
                Ann Rheum Dis. 2016 Jan 22. pii: annrheumdis-2015-208690. doi: 10.1136/annrheumdis-2015-208690. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/26802180
 
DICIEMBRE 2015
 
              • Demirkaya E, Erer B, Ozen S, Ben-Chetrit E.
                Efficacy and safety of treatments in Familial Mediterranean fever: a systematic review.
                Rheumatol Int. 2015 Dec 19.
                http://www.ncbi.nlm.nih.gov/pubmed/26687683
              • Erer B, Demirkaya E, Ozen S, Kallinich T
                What is the best acute phase reactant for familial Mediterranean fever follow-up and its role in the prediction of complications? A systematic review.
                Rheumatol Int. 2015 Dec 28.
                http://www.ncbi.nlm.nih.gov/pubmed/26712372
 
NOVIEMBRE 2015
 
              • R Levy, L Gérard, J Kuemmerle-Deschner, H J Lachmann, I Koné-Paut, L Cantarini, P Woo, A Naselli, B Bader-Meunier, A Insalaco, S M Al-Mayouf, S Ozen, M Hofer, J Frenkel, C Modesto, I Nikishina, T Schwarz, S Martino, A Meini, P Quartier, A Martini, N Ruperto, B Neven, M Gattorno, for PRINTO and Eurofever
                Extended report:Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry
                Ann Rheum Dis 2015;74:2043-2049
                doi:10.1136/annrheumdis-2013-204991
                [Abstract] 
              • Anna Mensa-Vilaro, Weng Tarng Cham, Swee Ping Tang, Sern Chin Lim, Eva González-Roca, Estibaliz Ruiz-Ortiz, Roziana Ariffin, Jordi Yagüe and Juan I. Aróstegui
                First report of intrafamilial recurrence of Blau syndrome due to gonosomal NOD2 mosaicism
                Arthritis & Rheumatology
                DOI: 10.1002/art.39519
                Abstract 
              • Insoo Kang
                Is the NLPR3 inflammasome “overheated” by pneumococcal vaccination in cryopyrin-associated periodic syndromes?
                Arthritis & Rheumatology
                DOI: 10.1002/art.39483
                Abstract 
              • Masaki Takeuchia, b, Daniel L. Kastnera, Elaine F. Remmersa
                The immunogenetics of Behçet's disease: A comprehensive review
                Journal of Autoimmunity
                Volume 64, November 2015, Pages 137–148 
              • Jasmin Kuemmerle-Deschner, Assen Koitschev, Pascal Tyrrell, Stefan Plontke, Norbert Deschner, Sandra Hansmann, Katharina Ummenhofer, Peter Lohse, Christiane Koitschev, Susanne Benseler
                Early detection of sensorineural hearing loss in Muckle-Wells-syndrome
                Pediatric Rheumatology 2015, 13:43 (4 November 2015)
                Abstract
 
OCTUBRE 2015
              • Levy R, Gérard L, Kuemmerle-Deschner J, Lachmann HJ, Koné-Paut I, Cantarini L, et al.
                Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry
                Ann Rheum Dis 2015;74:2043-9
                http://ard.bmj.com/content/74/11/2043.abstract
              • Anton J, Calvo I, Fernández-Martin J, Gamir ML, Merino R, Jimenez-Treviño S, Sevilla B, Cabades F, Bou R, Arostegui JI.
                Efficacy and safety of canakinumab in cryopyrin-associated periodic syndromes: results from a Spanish cohort
                Clin Exp Rheumatol. 2015 Aug 5. [Epub ahead of print]
                http://www.ncbi.nlm.nih.gov/pubmed/26243511
              • Rusmini M, Federici S, Caroli F, Grossi A, Baldi M, Obici L, Insalaco A, Tommasini A, Caorsi R, Gallo E, Olivieri AN, Marzano A, Coviello D, Ravazzolo R, Martini A, Gattorno M, Ceccherini I.
                Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases
                Ann Rheum Dis. 2015 Sep 17. pii: annrheumdis-2015-207701. doi: 10.1136/annrheumdis-2015-207701. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/26386126
              • Koné-Paut I, Galeotti C.
                Current treatment recommendations and considerations for cryopyrin-associated periodic syndrome
                Expert Rev Clin Immunol. 2015 Oct;11(10):1083-92.
                http://www.ncbi.nlm.nih.gov/pubmed/26312542 
 
SEPTIEMBRE 2015
              • Houx L, Hachulla E, Kone-Paut I, Quartier P, Touitou I, Guennoc X, Grateau G, Hamidou M, Neven B, Berthelot JM, Lequerré T, Pillet P, Lemelle I, Fischbach M, Duquesne A, Le Blay P, Le Jeunne C, Stirnemann J, Bonnet C, Gaillard D, Alix L, Touraine R, Garcier F, Bedane C, Jurquet AL, Duffau P, Smail A, Frances C, Grall-Lerosey M, Cathebras P, Tran TA, Morell-Dubois S, Pagnier A, Richez C, Cuisset L, Devauchelle-Pensec V.
                Musculoskeletal Symptoms in Patients With Cryopyrin-Associated Periodic Syndromes: A Large Database Study.
                Arthritis Rheumatol. 2015 Nov;67(11):3027-36. doi: 10.1002/art.39292.
                http://www.ncbi.nlm.nih.gov/pubmed/26245507
              • Fairclough LC, Stoop AA, Negm OH, Radford PM, Tighe PJ, Todd I.
                Tumour necrosis factor receptor I blockade shows that TNF-dependent and TNF-independent mechanisms synergise in TNF receptor associated periodic syndrome.
                Eur J Immunol. 2015 Oct;45(10):2937-44. doi: 10.1002/eji.201545769.
                http://www.ncbi.nlm.nih.gov/pubmed/26202849
              • ter Haar NM, Oswald M, Jeyaratnam J, Anton J, Barron KS, Brogan PA, Cantarini L, Galeotti C, Grateau G, Hentgen V, Hofer M, Kallinich T, Kone-Paut I, Lachmann HJ, Ozdogan H, Ozen S, Russo R, Simon A, Uziel Y, Wouters C, Feldman BM, Vastert SJ, Wulffraat NM, Benseler SM, Frenkel J, Gattorno M, Kuemmerle-Deschner JB.
                Recommendations for the management of autoinflammatory diseases.
                Ann Rheum Dis. 2015 Sep;74(9):1636-44. doi: 10.1136/annrheumdis-2015-207546.
                http://www.ncbi.nlm.nih.gov/pubmed/26109736
              • Bölükbasi B, Krause K.
                Cutaneous manifestations of systemic autoinflammatory disorders.
                Clin Dermatol. 2015 Sep-Oct;33(5):520-6. doi: 10.1016/j.clindermatol.2015.05.002.
                http://www.ncbi.nlm.nih.gov/pubmed/26321397
              • Caso F, Galozzi P, Costa L, Sfriso P, Cantarini L, Punzi L.
                Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease.
                RMD Open. 2015 Jul 20;1(1):e000097. doi: 10.1136/rmdopen-2015-000097
                http://www.ncbi.nlm.nih.gov/pubmed/26509073
              • Zeybek C, Basbozkurt G, Gul D, Demirkaya E, Gok F.
                A new mutation in Blau syndrome.
                Case Rep Rheumatol. 2015;2015:463959. doi: 10.1155/2015/463959
                http://www.ncbi.nlm.nih.gov/pubmed/25692065
 
AGOSTO 2015
              • Koné-Paut I, Galeotti C.
                Current treatment recommendations and considerations for cryopyrin-associated periodic syndrome.
                Expert Rev Clin Immunol. 2015 Aug 27:1-10. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/26312542.
              • Drobek A, Kralova J, Skopcova T, Kucova M, Novák P, Angelisová P, Otahal P, Alberich-Jorda M4, Brdicka T.
                PSTPIP2, a Protein Associated with Autoinflammatory Disease, Interacts with Inhibitory Enzymes SHIP1 and Csk.
                J Immunol. 2015 Aug 24. EPUB ahead of print]
                http://www.ncbi.nlm.nih.gov/pubmed/26304991
              • Edwan JH, Goldbach-Mansky R, Colbert RA.
                Identification of IL-1β-producing monocytes that are susceptible to pyronecrotic cell death in patients with NOMID.
                Arthritis Rheumatol. 2015 Aug 5. doi:10.1002/art.39307. EPUB ahead of print]
                http://www.ncbi.nlm.nih.gov/pubmed/26245468 .
              • Houx L, Hachulla E, Kone-Paut I, Quartier P, Touitou I, Guennoc X, Grateau G, Hamidou M, Neven B, Berthelot JM, Lequerré T, Pillet P, Lemelle I, Fischbach M, Duquesne A, Le Blay P, Le Jeunne C, Stirnemann J, Bonnet C, Gaillard D, Alix L, Touraine R, Garcier F, Bedane C, Jurquet AL, Duffau P, Smail A, Frances C, Le Rosey-Grall M, Cathebras P, Tran TA, Morell-Dubois S, Pagnier A, Richez C, Cuisset L, Devauchelle-Pensec V.
                Musculoskeletal Symptoms in Patients with Cryopyrin-Associated Periodic Syndromes: Large Database Study.
                Arthritis Rheumatol.2015 Aug 5. doi:10.1002/art.39292. EPUB ahead of print]
                http://www.ncbi.nlm.nih.gov/pubmed/26245507
              • Yadlapati S, Efthimiou P.
                Impact of IL-1 inhibition on fatigue associated with autoinflammatory syndromes.
                Mod Rheumatol. 2015 Aug 3:1-6. EPUB ahead of print]
                http://www.ncbi.nlm.nih.gov/pubmed/26140469
 
JUNIO 2015
              • Ter Haar NM, Oswald M, Jeyaratnam J, Anton J, Barron KS, Brogan PA, Cantarini L, Galeotti C, Grateau G, Hentgen V, Hofer M, Kallinich T, Kone-Paut I, Lachmann HJ, Ozdogan H, Ozen S, Russo R, Simon A, Uziel Y, Wouters C, Feldman BM, Vastert SJ, Wulffraat NM, Benseler SM, Frenkel J, Gattorno M, Kuemmerle-Deschner JB.
                Recommendations for the management of autoinflammatory diseases.
                Ann Rheum Dis. 2015 Jun 24. pii: annrheumdis-2015-207546. doi: 10.1136/annrheumdis-2015-207546. [Epub ahead of print] Review.
                http://www.ncbi.nlm.nih.gov/pubmed/26109736
              • Kaiser D, Bolt I, Hofer M, Relly C, Berthet G, Bolz D and Saurenmann T
                Chronic nonbacterial osteomyelitis in children: a retrospective multicenter study
                Pediatr Rheumatol Online J. 2015 Jun 19;13:25. doi: 10.1186/s12969-015-0023-y.
                http://www.ncbi.nlm.nih.gov/pubmed/26088861 
              • La Torre F1, Muratore M, Vitale A, Moramarco F, Quarta L, Cantarini L.
                Canakinumab efficacy and long-term tocilizumab administration in tumor necrosis factor receptor-associated periodic syndrome (TRAPS).
                Rheumatol Int. 2015 Jun 6. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/26048626 
              • Rosé CD, Pans S, Casteels I, Anton J, Bader-Meunier B, Brissaud P, Cimaz R, Espada G, Fernandez-Martin J, Hachulla E, Harjacek M, Khubchandani R, Mackensen F, Merino R, Naranjo A, Oliveira-Knupp S, Pajot C, Russo R, Thomée C, Vastert S, Wulffraat N, Arostegui JI, Foley KP, Bertin J, Wouters CH.
                Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes.
                Rheumatology (2015) 54 (6): 1008-1016 doi:10.1093/rheumatology/keu437
                http://www.ncbi.nlm.nih.gov/pubmed/25416713
 
MAYO 2015
 
ABRIL 2015
              • De Pieri C, Vuch J, De Martino E, Bianco AM, Ronfani L, Athanasakis E, Bortot B, Crovella S, Taddio A, Severini GM, Tommasini A.
                Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.
                Pediatr Rheumatol Online J. 2015 Apr 10;13:11. doi: 10.1186/s12969-015-0006-z. eCollection 2015.
                http://www.ncbi.nlm.nih.gov/pubmed/25866490
                Acceso directo: http://www.ped-rheum.com/content/13/1/11
              • Aksentijevich I.
                Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years.
                Semin Immunopathol. 2015 Apr 10. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/25860799
              • Lantto U, Koivunen P, Tapiainen T, Glumoff V, Hirvikoski P, Uhari M, Renko M.
                Microbes of the tonsils in PFAPA (Periodic Fever, Aphtous stomatitis, Pharyngitis and Adenitis) syndrome - a possible trigger of febrile episodes.
                APMIS. 2015 Apr 23. doi: 10.1111/apm.12383. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/25907769
              • Westendorp WF, Nederkoorn PJ, Aksentijevich I, Hak AE, Lichtenbelt KD, Braun KP.
                Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency
                Neurology. 2015 Apr 17. pii: 10.1212/WNL.0000000000001581. [Epub ahead of print] 
                http://www.ncbi.nlm.nih.gov/pubmed/25888558
              • Ozen S, Batu ED.
                The myths we believed in familial Mediterranean fever: what have we learned in the past years?
                Semin Immunopathol. 2015 Apr 2
                http://www.ncbi.nlm.nih.gov/pubmed/25832989
 
MARZO 2015
              • Perko D, Debeljak M, Toplak N, Avčin T.
                Clinical features and genetic background of the periodic Fever syndrome with aphthous stomatitis, pharyngitis, and adenitis: a single center longitudinal study of 81 patients.
                Mediators Inflamm. 2015;2015:293417. doi: 10.1155/2015/293417. Epub 2015 Mar 4.
                http://www.ncbi.nlm.nih.gov/pubmed/25821352
              • Petrushkin H, Stanford M, Fortune F, Jawad AS.
                Clinical Review: Familial Mediterranean Fever-An Overview of Pathogenesis, Symptoms, Ocular Manifestations, and Treatment.
                Ocul Immunol Inflamm. 2015 Mar 11:1-9. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/25760918
 
FEBRERO 2015
              • Berody S, Galeotti C, Koné-Paut I, Piram M.
                A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency.
                Joint Bone Spine. 2015 Feb 9.
                http://www.ncbi.nlm.nih.gov/pubmed/25677409
              • Bayram MT, Çankaya T, Bora E, Kavukçu S, Ülgenalp A, Soylu A, Türkmen M.
                Risk factors for subclinical inflammation in children with Familial Mediterranean fever.
                Rheumatol Int. 2015 Feb 11.
                http://www.ncbi.nlm.nih.gov/pubmed/25669438
              • de Inocencio J, Mensa-Vilaro A, Tejada-Palacios P, Enriquez-Merayo E, González-Roca E, Magri G, Ruiz-Ortiz E, Cerutti A, Yagüe J, Aróstegui JI.
                Somatic NOD2 mosaicism in Blau syndrome.
                J Allergy Clin Immunol. 2015 Feb 25.
                http://www.ncbi.nlm.nih.gov/pubmed/25724124
              • Cantarini L, Vitale A, Bersani G, Nieves LM, Cattalini M, Lopalco G, Caso F, Costa L, Iannone F, Lapadula G, Galeazzi M, Ceribelli A, Brunetta E, Selmi C, Rigante D.
                PFAPA syndrome and Behçet's disease: a comparison of two medical entities based on the clinical interviews performed by three different specialists.
                Clin Rheumatol. 2015 Feb 10.
                http://www.ncbi.nlm.nih.gov/pubmed/25665824
              • Coll RC, Robertson AA, Chae JJ, Higgins SC, Muñoz-Planillo R, Inserra MC, Vetter I, Dungan LS, Monks BG, Stutz A, Croker DE, Butler MS, Haneklaus M, Sutton CE, Núñez G, Latz E, Kastner DL, Mills KH, Masters SL, Schroder K, Cooper MA, O'Neill LA.
                A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases.
                Nat Med. 2015 Mar;21(3):248-55.
                http://www.ncbi.nlm.nih.gov/pubmed/25686105
              • de Jesus AA, Canna SW, Liu Y, Goldbach-Mansky R.
                Molecular Mechanisms in Genetically Defined Autoinflammatory Diseases: Disorders of Amplified Danger Signaling.
                Annu Rev Immunol. 2015 Feb 20.
                http://www.ncbi.nlm.nih.gov/pubmed/25706096
              • Carta S, Penco F, Lavieri R, Martini A, Dinarello CA, Gattorno M, Rubartelli A.
                Cell stress increases ATP release in NLRP3 inflammasome-mediated autoinflammatory diseases, resulting in cytokine imbalance.
                Proc Natl Acad Sci U S A. 2015 Mar 3;112(9):2835-40.
                http://www.ncbi.nlm.nih.gov/pubmed/25730877
 
ENERO 2015
              • Wipff J, Costantino F, Lemelle I, Pajot C, Duquesne A, Lorrot M, Faye A, Bader-Meunier B, Brochard K, Despert V, Jean S, Grall-Lerosey M, Marot Y, Nouar D, Pagnier A, Quartier P, Job-Deslandre C.
                A Large National Cohort of French Patients with Chronic Recurrent Multifocal Osteitis.
                Arthritis Rheumatol. 2014 Dec 29. doi: 10.1002/art.39013. [Epub ahead of print]
                http://www.ncbi.nlm.nih.gov/pubmed/25545761
              •  Federici S, Sormani MP, Ozen S, Lachmann HJ, Amaryan G, Woo P, Koné-Paut I, Dewarrat N, Cantarini L, Insalaco A, Uziel Y, Rigante D,Quartier P, Demirkaya E, Herlin T, Meini A, Fabio G, Kallinich T, Martino S, Butbul AY, Olivieri A, Kuemmerle-Deschner J, Neven B,Simon A, Ozdogan H, Touitou I, Frenkel J, Hofer M, Martini A, Ruperto N, Gattorno M; for the Paediatric Rheumatology International Trials Organisation (PRINTO) and Eurofever Project.
                Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers.
                Ann Rheum Dis. 2015 Jan 30. pii: annrheumdis-2014-206580. doi: 10.1136/annrheumdis-2014-206580. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/25637003
              •  Giancane G, Ter Haar NM, Wulffraat N, Vastert SJ, Barron K, Hentgen V, Kallinich T, Ozdogan H, Anton J, Brogan P, Cantarini L, Frenkel J,Galeotti C, Gattorno M, Grateau G, Hofer M, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Simon A, Demirkaya E, Feldman B, Uziel Y, Ozen S.
                Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.
                Ann Rheum Dis. 2015 Jan 27. pii: annrheumdis-2014-206844. doi: 10.1136/annrheumdis-2014-206844. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/25628446
 
DICIEMBRE 2014
              • Jeremiah N, Neven B, Gentili M, Callebaut I, Maschalidi S, Stolzenberg MC, et al.
                Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations
                J Clin Invest. 2014 Dec 1;124(12):5516-20. doi: 10.1172/JCI79100
                http://www.ncbi.nlm.nih.gov/pubmed/25401470
              • Başaran Ö, Uncu N, Çelikel BA, Taktak A, Gür G, Cakar N.
                Interleukin-1 targeting treatment in familial Mediterranean fever: an experience of pediatric patients.
                Mod Rheumatol. 2014 Dec 22:1-4.
                http://www.ncbi.nlm.nih.gov/pubmed/25528863
              • Caso F, Costa L, Rigante D, Vitale A, Cimaz R, Lucherini OM, Sfriso P, Verrecchia E, Tognon S, Bascherini V, Galeazzi M, Punzi L, Cantarini L.
                Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis.
                Autoimmun Rev. 2014 Dec;13(12):1220-1229.
                http://www.ncbi.nlm.nih.gov/pubmed/25182201
              • Boyle JP, Parkhouse R, Monie TP.
                Insights into the molecular basis of the NOD2 signalling pathway.
                Open Biol. 2014 Dec;4(12). pii: 140178.
                http://www.ncbi.nlm.nih.gov/pubmed/25520185
 
NOVIEMBRE 2014
              • Rosé CD, Pans S, Casteels I, Anton J, Bader-Meunier B, Brissaud P, Cimaz R, Espada G, Fernandez-Martin J, Hachulla E, Harjacek M, Khubchandani R, Mackensen F, Merino R, Naranjo A, Oliveira-Knupp S, Pajot C, Russo R, Thomee C, Vastert S, Wulffraat N, Arostegui JI, Foley KP, Bertin J, Wouters CH.
                Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes.
                Rheumatology (Oxford). 2014 Nov 20. pii: keu437. [Epub ahead of print]
                http://www.ncbi.nlm.nih.gov/pubmed/?term=25416713
              • Hettinga YM, Verhagen FH, van Genderen M, de Boer JH.
                Characteristics of childhood uveitis leading to visual impairment and blindness in the Netherlands.
                Acta Ophthalmol. 2014 Dec;92(8):798-804.
                http://www.ncbi.nlm.nih.gov/pubmed/?term=24975684
              • Broderick L, De Nardo D, Franklin BS, Hoffman HM, Latz E.
                The Inflammasome and Autoinflammatory Syndromes.
                Annu Rev Pathol. 2014 Nov 19. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/?term=25423351
              • Witsch-Baumgartner M, Touitou I.
                Clinical utility gene card for: Prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes).
                Eur J Hum Genet. 2014 Nov 19. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/?term=25407006
              • Ten Oever J, Kox M, van de Veerdonk FL, Mothapo KM, Slavcovici A, Jansen TL, Tweehuysen L, Giamarellos-Bourboulis EJ, Schneeberger PM, Wever PC, Stoffels M, Simon A, van der Meer J, Johnson MD, Kullberg BJ, Pickkers P, Pachot A, Joosten L, Netea MG.
                The discriminative capacity of soluble Toll-like receptor (sTLR)2 and sTLR4 in inflammatory diseases.
                BMC Immunol. 2014 Nov 19;15(1):55.
                http://www.ncbi.nlm.nih.gov/pubmed/?term=25406630
              • Jamilloux Y, Gerfaud-Valentin M, Martinon F, Belot A, Henry T, Sève P.
                Pathogenesis of adult-onset Still's disease: new insights from the juvenile counterpart.
                Immunol Res. 2014 Nov 12. [Epub ahead of print]
                http://www.ncbi.nlm.nih.gov/pubmed/?term=25388963
              • Kitamura A, Sasaki Y, Abe T, Kano H, Yasutomo K.
                An inherited mutation in NLRC4 causes autoinflammation in human and mice.
                J Exp Med. 2014 Nov 17;211(12):2385-96.
                http://www.ncbi.nlm.nih.gov/pubmed/?term=25385754
              • Miller JJ, Venna N, Siva A.
                Neuro-behçet disease and autoinflammatory disorders.
                Semin Neurol. 2014 Sep;34(4):437-43.
                http://www.ncbi.nlm.nih.gov/pubmed/?term=25369439
              • Kanariou M, Tantou S, Varela I, Raptaki M, Petropoulou C, Nikas I, Valari M.
                Successful management of cryopyrin-associated periodic syndrome with canakinumab in infancy.
                Pediatrics. 2014 Nov;134(5):e1468-73.
                http://www.ncbi.nlm.nih.gov/pubmed/?term=25349319
              • Bernard NJ.
                Autoinflammation: NLRC4 mutation causes rare autoinflammatory disease.
                Nat Rev Rheumatol. 2014 Nov;10(11):635.
                http://www.ncbi.nlm.nih.gov/pubmed/?term=25266450
              • Tran TA, Pariente D, Guitton C, Delwail A, Barat-Houari M, Meinzer U.
                Treatment of Erdheim-Chester disease with canakinumab.
                Rheumatology (Oxford). 2014 Dec;53(12):2312-4.
                http://www.ncbi.nlm.nih.gov/pubmed/?term=25234662
              • Russo RA, Brogan PA.
                Monogenic autoinflammatory diseases.
                Rheumatology (Oxford). 2014 Nov;53(11):1927-1939.
                http://www.ncbi.nlm.nih.gov/pubmed/?term=24831056
              • Ling E, Israeli M, Klein T, Amir J, Harel L.
                Periodic fever, aphthous stomatitis, pharyngitis and cervical adenopathy syndrome is associated with activation of GM-CSF and burst-like expression of IL-8 in peripheral blood.
                Mod Rheumatol. 2014 Nov;24(6):997-1000.
                http://www.ncbi.nlm.nih.gov/pubmed/?term=24670131
              • Campanilho-Marques R, Brogan PA.
                Mevalonate kinase deficiency in two sisters with therapeutic response to anakinra: case report and review of the literature.
                Clin Rheumatol. 2014 Nov;33(11):1681-4.
                http://www.ncbi.nlm.nih.gov/pubmed/?term=24531849
              • Lachmann HJ, Papa R, Gerhold K, Obici L, Touitou I, Cantarini L, Frenkel J, Anton J, Kone-Paut I, Cattalini M, Bader-Meunier B, Insalaco A, Hentgen V, Merino R, Modesto C, Toplak N, Berendes R, Ozen S, Cimaz R, Jansson A, Brogan PA, Hawkins PN, Ruperto N, Martini A, Woo P, Gattorno M; Paediatric Rheumatology International Trials Organisation (PRINTO), the EUROTRAPS and the Eurofever Project.
                The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry.
                Ann Rheum Dis. 2014 Dec;73(12):2160-7.
                http://www.ncbi.nlm.nih.gov/pubmed/?term=23965844
OCTUBRE 2014
              • Kanariou M, Tantou S, Varela I, Raptaki M, Petropoulou C, Nikas I, Valari M.
                Successful Management of Cryopyrin-Associated Periodic Syndrome With Canakinumab in Infancy.
                Pediatrics. 2014 Oct 27. pii: peds.2013-3185. [Epub ahead of print]
                http://www.ncbi.nlm.nih.gov/pubmed/25349319
              • Cantarini L, Lopalco G, Selmi C, Napodano S, De Rosa G, Caso F, Costa L, Iannone F, Rigante D.
                Autoimmunity and autoinflammation as the yin and yang of idiopathic recurrent acute pericarditis.
                Autoimmun Rev. 2014 Oct 11. pii: S1568-9972(14)00217-1. doi: 10.1016/j.autrev.2014.10.005. [Epub ahead of print] Review.
                http://www.ncbi.nlm.nih.gov/pubmed/25308531
              • Zhang X, Bogunovic D, Payelle-Brogard B, Francois-Newton V, Speer SD, Yuan C, Volpi S, Li Z, Sanal O, Mansouri D, Tezcan I, Rice GI, Chen C, Mansouri N, Mahdaviani SA, Itan Y, Boisson B, Okada S, Zeng L, Wang X, Jiang H, Liu W, Han T, Liu D, Ma T, Wang B, Liu M, Liu JY, Wang QK, Yalnizoglu D, Radoshevich L, Uzé G, Gros P, Rozenberg F, Zhang SY, Jouanguy E, Bustamante J, García-Sastre A, Abel L, Lebon P, Notarangelo LD, Crow YJ, Boisson-Dupuis S, Casanova JL, Pellegrini S.
                Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.
                Nature. 2014 Oct 12. doi: 10.1038/nature13801. [Epub ahead of print]
                http://www.ncbi.nlm.nih.gov/pubmed/25307056
              • Yazici H, Talarico R, Hamuryudan V.
                Self-criticism in Behçet's disease and other autoinflammatory conditions.
                Clin Exp Rheumatol. 2014 Sep-Oct;32 Suppl 84(4):5-6. Epub 2014 Sep 29.
                http://www.ncbi.nlm.nih.gov/pubmed/25268659
              • Roberta Caorsi, Paolo Picco, Antonella Buoncompagni, Alberto Martini, and Marco Gattorno
                Osteolytic Lesion in PAPA Syndrome Responding to Anti-interleukin 1 Treatmen
                J Rheumatol November 2014 41(11):2333-2334; doi:10.3899/jrheum.140060
                http://jrheum.org/content/41/11/2333.extract
 
SEPTIEMBRE 2014
              • Carreño E, Guly CM, Chilov M, Hinchcliffe A, Arostegui JI, Lee RW, Dick AD, Ramanan AV.
                Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome).
                Acta Ophthalmol. 2014 Sep 10. doi: 10.1111/aos.12544. [Epub ahead of print]
                http://www.ncbi.nlm.nih.gov/pubmed/25209167
              • Canna SW, de Jesus AA, Gouni S, Brooks SR, Marrero B, Liu Y, DiMattia MA, Zaal KJ, Sanchez GA, Kim H, Chapelle D, Plass N, Huang Y, Villarino AV, Biancotto A, Fleisher TA, Duncan JA, O'Shea JJ, Benseler S, Grom A, Deng Z, Laxer RM, Goldbach-Mansky R.
                An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.
                Nat Genet. 2014 Sep 14. doi: 10.1038/ng.3089. [Epub ahead of print]
                http://www.ncbi.nlm.nih.gov/pubmed/25217959
              • Martinon F, Aksentijevich I.
                New players driving inflammation in monogenic autoinflammatory diseases.
                Nat Rev Rheumatol. 2014 Sep 23. doi: 10.1038/nrrheum.2014.158. [Epub ahead of print]http://www.ncbi.nlm.nih.gov/pubmed/25247411
              • Jéru I, Cochet E, Duquesnoy P, Hentgen V, Copin B, Mitjavila-Garcia MT, Sheykholeslami S, Le Borgne G, Dastot-Le Moal F, Malan V, Karabina S, Mahevas M, Chantot-Bastaraud S, Lecron JC, Faivre L, Amselem S.
                Involvement of TNFRSF11A molecular defects in autoinflammatory disorders.
                Arthritis Rheumatol. 2014 Sep;66(9):2621-2627.
                http://www.ncbi.nlm.nih.gov/pubmed/24891336
AGOSTO 2014
          • Caso F, Costa L, Rigante D, Vitale A, Cimaz R, Lucherini OM, Sfriso P, Verrecchia E, Tognon S, Bascherini V, Galeazzi M, Punzi L, Cantarini L.
            Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis.
            Autoimmun Rev. 2014 Aug 23. pii: S1568-9972(14)00154-2. doi: 10.1016/j.autrev.2014.08.010. [Epub ahead of print]
            http://www.ncbi.nlm.nih.gov/pubmed/25182201
          • Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Montealegre Sanchez GA, et al.
            Activated STING in a vascular and pulmonary syndrome.
            N Engl J Med. 2014 Aug 7;371(6):507-18.
            http://www.ncbi.nlm.nih.gov/pubmed/25029335
          • Wouters CH, Maes A, Foley KP, Bertin J, Rose CD.
            Blau Syndrome, the prototypic auto-inflammatory granulomatous disease.
            Pediatr Rheumatol Online J. 2014 Aug 6;12:33.
            http://www.ncbi.nlm.nih.gov/pubmed/25136265
          • Yilmaz R1, Karaaslan E, Ozer S, Sonmezgoz E, Kazanci NO, Cakan N, Akbas A.
            Hypovitaminosis D in Children with Familial Mediterranean Fever.
            Clin Invest Med. 2014 Aug 1;37(4):E211.
            http://www.ncbi.nlm.nih.gov/pubmed/25090260
          • Dávila-Seijo P1, Hernández-Martín A1, Torrelo A2.
            Autoinflammatory syndromes for the dermatologist.
            Clin Dermatol. 2014 Jul-Aug;32(4):488-501. doi: 10.1016/j.clindermatol.2014.02.004. Epub 2014 Feb 28.
            http://www.ncbi.nlm.nih.gov/pubmed/25017460
          • Hofmann C1, Wurm M, Schwarz T, Neubauer H, Beer M, Girschick H, Morbach H.
            A standardized clinical and radiological follow-up of patients with chronic non-bacterial osteomyelitis treated with pamidronate.
            Clin Exp Rheumatol. 2014 Jul-Aug;32(4):604-9. Epub 2014 Jul 23.
            http://www.ncbi.nlm.nih.gov/pubmed/25065777
 
PATROCINADORES
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