{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T21:02:58Z","timestamp":1790974978891,"version":"4.1.0"},"reference-count":156,"publisher":"Elsevier BV","issue":"3","content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Immunology"],"published-print":{"date-parts":[[2013,6]]},"DOI":"10.1016\/j.clim.2013.03.016","type":"journal-article","created":{"date-parts":[[2013,4,9]],"date-time":"2013-04-09T18:06:17Z","timestamp":1365530777000},"page":"155-174","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":174,"title":["Monogenic autoinflammatory diseases: Concept and clinical manifestations"],"prefix":"10.1016","volume":"147","author":[{"given":"Adriana","family":"Almeida de Jesus","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raphaela","family":"Goldbach-Mansky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.clim.2013.03.016_bb0005","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/ng0997-25","article-title":"A candidate gene for familial Mediterranean fever","volume":"17","author":"FMF Consortium","year":"1997","journal-title":"Nat. Genet."},{"issue":"4","key":"10.1016\/j.clim.2013.03.016_bb0010","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1016\/S0092-8674(00)80539-5","article-title":"Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever","volume":"90","author":"The International FMF Consortium","year":"1997","journal-title":"Cell"},{"issue":"1","key":"10.1016\/j.clim.2013.03.016_bb0015","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S0092-8674(00)80721-7","article-title":"Germline mutations in the extracellular domains of the 55kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes","volume":"97","author":"McDermott","year":"1999","journal-title":"Cell"},{"issue":"3","key":"10.1016\/j.clim.2013.03.016_bb0020","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1111\/j.1365-2249.2011.04533.x","article-title":"Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1","volume":"167","author":"Goldbach-Mansky","year":"2012","journal-title":"Clin. Exp. Immunol."},{"issue":"6","key":"10.1016\/j.clim.2013.03.016_bb0030","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1016\/j.cell.2010.03.002","article-title":"Autoinflammatory disease reloaded: a clinical perspective","volume":"140","author":"Kastner","year":"2010","journal-title":"Cell"},{"issue":"5 Pt 2","key":"10.1016\/j.clim.2013.03.016_bb0035","doi-asserted-by":"crossref","first-page":"38R","DOI":"10.1203\/PDR.0b013e31819dbd0a","article-title":"An integrated classification of pediatric inflammatory diseases, based on the concepts of autoinflammation and the immunological disease continuum","volume":"65","author":"McGonagle","year":"2009","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.clim.2013.03.016_bb0040","first-page":"718","article-title":"Ethnic distribution and amyloidosis in familial Mediterranean fever","volume":"24","author":"Heller","year":"1961","journal-title":"Pathologia Et Microbiologia"},{"key":"10.1016\/j.clim.2013.03.016_bb0050","first-page":"15","article-title":"An unusual paroxysmal syndrome, probably allied to recurrent vomiting, with a study of the nitrogen metabolism","volume":"23","author":"Janeway","year":"1908","journal-title":"Trans. Assoc. Am. Phys."},{"key":"10.1016\/j.clim.2013.03.016_bb0055","doi-asserted-by":"crossref","first-page":"21","DOI":"10.7326\/0003-4819-23-1-1","article-title":"Benign paroxysmal peritonitis","volume":"23","author":"Siegal","year":"1945","journal-title":"Ann. Intern. Med."},{"issue":"6","key":"10.1016\/j.clim.2013.03.016_bb0060","doi-asserted-by":"crossref","first-page":"1862","DOI":"10.1002\/art.24570","article-title":"Clinical disease among patients heterozygous for familial Mediterranean fever","volume":"60","author":"Marek-Yagel","year":"2009","journal-title":"Arthritis Rheum."},{"issue":"5","key":"10.1016\/j.clim.2013.03.016_bb0070","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1111\/j.1365-2141.2009.07733.x","article-title":"Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy","volume":"146","author":"Chae","year":"2009","journal-title":"Br. J. Haematol."},{"issue":"4","key":"10.1016\/j.clim.2013.03.016_bb0075","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1038\/sj.ejhg.5200446","article-title":"Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups","volume":"8","author":"Stoffman","year":"2000","journal-title":"Eur. J. Hum. Genet."},{"issue":"26","key":"10.1016\/j.clim.2013.03.016_bb0085","doi-asserted-by":"crossref","first-page":"9982","DOI":"10.1073\/pnas.0602081103","article-title":"The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production","volume":"103","author":"Chae","year":"2006","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"10","key":"10.1016\/j.clim.2013.03.016_bb0090","doi-asserted-by":"crossref","first-page":"2372","DOI":"10.3899\/jrheum.090250","article-title":"Is E148Q a benign polymorphism or a disease-causing mutation?","volume":"36","author":"Marek-Yagel","year":"2009","journal-title":"J. Rheumatol."},{"issue":"7","key":"10.1016\/j.clim.2013.03.016_bb0025","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1038\/sj.ejhg.5200658","article-title":"The spectrum of familial Mediterranean fever (FMF) mutations","volume":"9","author":"Touitou","year":"2001","journal-title":"Eur. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.clim.2013.03.016_bb0110","doi-asserted-by":"crossref","first-page":"865","DOI":"10.3899\/jrheum.090687","article-title":"Familial Mediterranean fever in children presenting with attacks of fever alone","volume":"37","author":"Padeh","year":"2010","journal-title":"J. Rheumatol."},{"issue":"2","key":"10.1016\/j.clim.2013.03.016_bb0115","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.bpg.2004.11.009","article-title":"Familial Mediterranean fever\u2014a not so unusual cause of abdominal pain","volume":"19","author":"Simon","year":"2005","journal-title":"Best Pract. Res. Clin. Gastroenterol."},{"issue":"6","key":"10.1016\/j.clim.2013.03.016_bb0120","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1016\/S1297-319X(02)00452-9","article-title":"Hip involvement in patients with familial Mediterranean fever. A review of ten cases","volume":"69","author":"Younes","year":"2002","journal-title":"Joint Bone Spine"},{"key":"10.1016\/j.clim.2013.03.016_bb0860","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1016\/S0140-6736(97)09408-7","article-title":"Familial Mediterranean fever","volume":"351","author":"Ben-Chetrit","year":"1998","journal-title":"Lancet"},{"issue":"7","key":"10.1016\/j.clim.2013.03.016_bb0125","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1097\/RHU.0b013e31823682f5","article-title":"Effects of anti-tumor necrosis factor agents for familial mediterranean fever patients with chronic arthritis and\/or sacroiliitis who were resistant to colchicine treatment","volume":"17","author":"Bilgen","year":"2011","journal-title":"J. Clin. Rheumatol."},{"issue":"9","key":"10.1016\/j.clim.2013.03.016_bb0135","first-page":"1708","article-title":"Protracted febrile myalgia in patients with familial Mediterranean fever","volume":"21","author":"Langevitz","year":"1994","journal-title":"J. Rheumatol."},{"issue":"10","key":"10.1016\/j.clim.2013.03.016_bb0140","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1093\/qjmed\/90.10.643","article-title":"Attacks of pericarditis as a manifestation of familial Mediterranean fever (FMF)","volume":"90","author":"Kees","year":"1997","journal-title":"QJM"},{"issue":"6","key":"10.1016\/j.clim.2013.03.016_bb0145","first-page":"367","article-title":"Large hemorrhagic pericardial effusion","volume":"14","author":"Barski","year":"2012","journal-title":"Isr. Med. Assoc. J."},{"issue":"1\u20132","key":"10.1016\/j.clim.2013.03.016_bb0155","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1007\/s003830050019","article-title":"The acute scrotum in Arab children with familial Mediterranean fever","volume":"16","author":"Majeed","year":"2000","journal-title":"Pediatr. Surg. Int."},{"issue":"10","key":"10.1016\/j.clim.2013.03.016_bb0160","doi-asserted-by":"crossref","first-page":"1879","DOI":"10.1002\/art.1780401023","article-title":"Criteria for the diagnosis of familial Mediterranean fever","volume":"40","author":"Livneh","year":"1997","journal-title":"Arthritis Rheum."},{"issue":"4","key":"10.1016\/j.clim.2013.03.016_bb0165","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1093\/rheumatology\/ken509","article-title":"A new set of criteria for the diagnosis of familial Mediterranean fever in childhood","volume":"48","author":"Yalcinkaya","year":"2009","journal-title":"Rheumatology (Oxford)"},{"issue":"5","key":"10.1016\/j.clim.2013.03.016_bb0170","doi-asserted-by":"crossref","first-page":"1706","DOI":"10.1002\/art.22507","article-title":"Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever","volume":"56","author":"Touitou","year":"2007","journal-title":"Arthritis Rheum."},{"issue":"1","key":"10.1016\/j.clim.2013.03.016_bb0175","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/01.md.0000152370.84628.0c","article-title":"Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study","volume":"84","author":"Tunca","year":"2005","journal-title":"Medicine"},{"issue":"23","key":"10.1016\/j.clim.2013.03.016_bb0180","doi-asserted-by":"crossref","first-page":"2361","DOI":"10.1056\/NEJMoa070265","article-title":"Natural history and outcome in systemic AA amyloidosis","volume":"356","author":"Lachmann","year":"2007","journal-title":"N. Engl. J. Med."},{"issue":"1","key":"10.1016\/j.clim.2013.03.016_bb0185","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/S0049-0172(98)80028-0","article-title":"Colchicine: 1998 update","volume":"28","author":"Ben-Chetrit","year":"1998","journal-title":"Semin. Arthritis Rheum."},{"issue":"4","key":"10.1016\/j.clim.2013.03.016_bb0195","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1053\/S0049-0172(03)00137-9","article-title":"Colchicine nonresponsiveness in familial Mediterranean fever: clinical, genetic, pharmacokinetic, and socioeconomic characterization","volume":"33","author":"Lidar","year":"2004","journal-title":"Semin. Arthritis Rheum."},{"issue":"2","key":"10.1016\/j.clim.2013.03.016_bb0200","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1093\/ndt\/gfn646","article-title":"Successful treatment of familial Mediterranean fever with Anakinra and outcome after renal transplantation","volume":"24","author":"Moser","year":"2009","journal-title":"Nephrol. Dial. Transplant."},{"issue":"8","key":"10.1016\/j.clim.2013.03.016_bb0205","doi-asserted-by":"crossref","first-page":"533","DOI":"10.7326\/0003-4819-157-8-201210160-00003","article-title":"Rilonacept for colchicine-resistant or -intolerant familial Mediterranean fever: a randomized trial","volume":"157","author":"Hashkes","year":"2012","journal-title":"Ann. Intern. Med."},{"issue":"7","key":"10.1016\/j.clim.2013.03.016_bb0210","first-page":"1362","article-title":"Interferon-alpha as a treatment modality for colchicine-resistant familial Mediterranean fever","volume":"35","author":"Tweezer-Zaks","year":"2008","journal-title":"J. Rheumatol."},{"issue":"4 Suppl. 34","key":"10.1016\/j.clim.2013.03.016_bb0215","first-page":"S41","article-title":"The efficacy of continuous interferon alpha administration as an adjunctive agent to colchicine-resistant familial Mediterranean fever patients","volume":"22","author":"Calguneri","year":"2004","journal-title":"Clin. Exp. Rheumatol."},{"issue":"4 Suppl. 26","key":"10.1016\/j.clim.2013.03.016_bb0220","first-page":"S43","article-title":"Successful treatment of familial Mediterranean fever attacks with thalidomide in a colchicine resistant patient","volume":"20","author":"Seyahi","year":"2002","journal-title":"Clin. Exp. Rheumatol."},{"issue":"5 Suppl. 42","key":"10.1016\/j.clim.2013.03.016_bb0225","first-page":"S99","article-title":"Treatment options in colchicine resistant familial Mediterranean fever patients: thalidomide and etanercept as adjunctive agents","volume":"24","author":"Seyahi","year":"2006","journal-title":"Clin. Exp. Rheumatol."},{"issue":"1","key":"10.1016\/j.clim.2013.03.016_bb0230","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1097\/01.rhu.0000255772.25658.7c","article-title":"Familial Mediterranean fever successfully treated with etanercept","volume":"13","author":"Mor","year":"2007","journal-title":"J. Clin. Rheumatol."},{"issue":"8","key":"10.1016\/j.clim.2013.03.016_bb0235","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1007\/s10067-012-2009-1","article-title":"Infliximab therapy for familial Mediterranean fever-related amyloidosis: case series with long term follow-up","volume":"31","author":"Ozcakar","year":"2012","journal-title":"Clin. Rheumatol."},{"issue":"10","key":"10.1016\/j.clim.2013.03.016_bb0240","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1093\/rheumatology\/kel250","article-title":"Clinical improvement with infliximab in a child with amyloidosis secondary to familial Mediterranean fever","volume":"45","author":"Yuksel","year":"2006","journal-title":"Rheumatology (Oxford)"},{"issue":"2","key":"10.1016\/j.clim.2013.03.016_bb0245","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1038\/9691","article-title":"Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome","volume":"22","author":"Houten","year":"1999","journal-title":"Nat. Genet."},{"issue":"6","key":"10.1016\/j.clim.2013.03.016_bb0250","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1097\/MD.0b013e318190cfb7","article-title":"Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome","volume":"87","author":"van der Hilst","year":"2008","journal-title":"Medicine"},{"issue":"2","key":"10.1016\/j.clim.2013.03.016_bb0255","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1038\/sj.ejhg.5200933","article-title":"Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands","volume":"11","author":"Houten","year":"2003","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.clim.2013.03.016_bb0260","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/1750-1172-1-13","article-title":"Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome","volume":"1","author":"Haas","year":"2006","journal-title":"Orphanet J. Rare Dis."},{"issue":"2","key":"10.1016\/j.clim.2013.03.016_bb0265","doi-asserted-by":"crossref","first-page":"e535","DOI":"10.1542\/peds.2010-2192","article-title":"Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency","volume":"129","author":"Ruiz Gomez","year":"2012","journal-title":"Pediatrics"},{"issue":"4","key":"10.1016\/j.clim.2013.03.016_bb0275","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1038\/sj.ejhg.5200614","article-title":"Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome","volume":"9","author":"Cuisset","year":"2001","journal-title":"Eur. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.clim.2013.03.016_bb0280","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1097\/00005792-199405000-00002","article-title":"Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group","volume":"73","author":"Drenth","year":"1994","journal-title":"Medicine"},{"issue":"6","key":"10.1016\/j.clim.2013.03.016_bb0285","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1097\/MD.0b013e318190cfb7","article-title":"Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome","volume":"87","author":"van der Hilst","year":"2008","journal-title":"Medicine"},{"issue":"1","key":"10.1016\/j.clim.2013.03.016_bb0290","doi-asserted-by":"crossref","first-page":"e152","DOI":"10.1542\/peds.2010-3639","article-title":"Mevalonate kinase deficiency: a survey of 50 patients","volume":"128","author":"Bader-Meunier","year":"2011","journal-title":"Pediatrics"},{"issue":"6","key":"10.1016\/j.clim.2013.03.016_bb0295","doi-asserted-by":"crossref","first-page":"1823","DOI":"10.1002\/art.23474","article-title":"A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children","volume":"58","author":"Gattorno","year":"2008","journal-title":"Arthritis Rheum."},{"issue":"1","key":"10.1016\/j.clim.2013.03.016_bb0300","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1001\/archderm.1994.01690010063008","article-title":"Cutaneous manifestations and histologic findings in the hyperimmunoglobulinemia D syndrome. International Hyper IgD Study Group","volume":"130","author":"Drenth","year":"1994","journal-title":"Arch. Dermatol."},{"issue":"1","key":"10.1016\/j.clim.2013.03.016_bb0305","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/S0022-3476(03)00212-9","article-title":"Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) in a child with normal serum IgD, but increased serum IgA concentration","volume":"143","author":"Saulsbury","year":"2003","journal-title":"J. Pediatr."},{"issue":"10","key":"10.1016\/j.clim.2013.03.016_bb0310","doi-asserted-by":"crossref","first-page":"1597","DOI":"10.1093\/rheumatology\/kem200","article-title":"Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome","volume":"46","author":"Ammouri","year":"2007","journal-title":"Rheumatology (Oxford)"},{"issue":"8","key":"10.1016\/j.clim.2013.03.016_bb0315","doi-asserted-by":"crossref","first-page":"1677","DOI":"10.3899\/jrheum.081313","article-title":"A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever","volume":"36","author":"Steichen","year":"2009","journal-title":"J. Rheumatol."},{"issue":"6","key":"10.1016\/j.clim.2013.03.016_bb0320","doi-asserted-by":"crossref","first-page":"2010","DOI":"10.1002\/art.21901","article-title":"AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: a report of two cases","volume":"54","author":"Lachmann","year":"2006","journal-title":"Arthritis Rheum."},{"issue":"9","key":"10.1016\/j.clim.2013.03.016_bb0325","doi-asserted-by":"crossref","first-page":"2966","DOI":"10.1002\/art.20490","article-title":"First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome","volume":"50","author":"Obici","year":"2004","journal-title":"Arthritis Rheum."},{"issue":"3","key":"10.1016\/j.clim.2013.03.016_bb0330","doi-asserted-by":"crossref","first-page":"e41","DOI":"10.1053\/j.ajkd.2006.05.027","article-title":"Hereditary periodic fever with systemic amyloidosis: is hyper-IgD syndrome really a benign disease?","volume":"48","author":"Siewert","year":"2006","journal-title":"Am. J. Kidney Dis."},{"issue":"6","key":"10.1016\/j.clim.2013.03.016_bb0335","first-page":"865","article-title":"Renal amyloidosis due to hyper-IgD syndrome","volume":"32","author":"Li Cavoli","year":"2012","journal-title":"Nefrologia"},{"issue":"5","key":"10.1016\/j.clim.2013.03.016_bb0340","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1016\/j.clpt.2004.01.012","article-title":"Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome","volume":"75","author":"Simon","year":"2004","journal-title":"Clin. Pharmacol. Ther."},{"issue":"10","key":"10.1016\/j.clim.2013.03.016_bb0345","doi-asserted-by":"crossref","first-page":"1757","DOI":"10.1007\/s10067-006-0501-1","article-title":"A patient with hyper-IgD syndrome responding to anti-TNF treatment","volume":"26","author":"Demirkaya","year":"2007","journal-title":"Clin. Rheumatol."},{"issue":"2","key":"10.1016\/j.clim.2013.03.016_bb0350","doi-asserted-by":"crossref","first-page":"e523","DOI":"10.1542\/peds.2006-2015","article-title":"Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency","volume":"119","author":"Nevyjel","year":"2007","journal-title":"Pediatrics"},{"issue":"9","key":"10.1016\/j.clim.2013.03.016_bb0355","doi-asserted-by":"crossref","first-page":"2645","DOI":"10.1002\/art.11218","article-title":"Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome","volume":"48","author":"Takada","year":"2003","journal-title":"Arthritis Rheum."},{"issue":"10","key":"10.1016\/j.clim.2013.03.016_bb0360","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1007\/s10067-008-0911-3","article-title":"Hyperimmunoglobulinemia D and periodic fever syndrome; treatment with etanercept and follow-up","volume":"27","author":"Topaloglu","year":"2008","journal-title":"Clin. Rheumatol."},{"issue":"1","key":"10.1016\/j.clim.2013.03.016_bb0365","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/s00296-006-0164-x","article-title":"Treatment with anakinra in the hyperimmunoglobulinemia D\/periodic fever syndrome","volume":"27","author":"Rigante","year":"2006","journal-title":"Rheumatol. Int."},{"issue":"10","key":"10.1016\/j.clim.2013.03.016_bb0045","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.1093\/rheumatology\/kes097","article-title":"Efficacy of interleukin-1-targeting drugs in mevalonate kinase deficiency","volume":"51","author":"Galeotti","year":"2012","journal-title":"Rheumatology (Oxford)"},{"issue":"1","key":"10.1016\/j.clim.2013.03.016_bb0380","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1053\/j.gastro.2005.09.014","article-title":"Severe TNF receptor-associated periodic syndrome due to 2 TNFRSF1A mutations including a new F60V substitution","volume":"130","author":"Haas","year":"2006","journal-title":"Gastroenterology"},{"issue":"8","key":"10.1016\/j.clim.2013.03.016_bb0385","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1093\/rheumatology\/kep140","article-title":"Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics","volume":"48","author":"Lainka","year":"2009","journal-title":"Rheumatology (Oxford)"},{"issue":"22","key":"10.1016\/j.clim.2013.03.016_bb0390","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1017\/S1462399405009749","article-title":"The tumour necrosis factor receptor-associated periodic syndrome: current concepts","volume":"7","author":"Stojanov","year":"2005","journal-title":"Expert Rev. Mol. Med."},{"issue":"5","key":"10.1016\/j.clim.2013.03.016_bb0395","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1097\/00005792-200209000-00002","article-title":"The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder","volume":"81","author":"Hull","year":"2002","journal-title":"Medicine"},{"issue":"8","key":"10.1016\/j.clim.2013.03.016_bb0400","doi-asserted-by":"crossref","first-page":"2189","DOI":"10.1002\/art.10448","article-title":"Monocytic fasciitis: a newly recognized clinical feature of tumor necrosis factor receptor dysfunction","volume":"46","author":"Hull","year":"2002","journal-title":"Arthritis Rheum."},{"issue":"12","key":"10.1016\/j.clim.2013.03.016_bb0405","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1007\/s00431-008-0685-2","article-title":"TNF receptor-associated periodic syndrome (TRAPS): description of a novel TNFRSF1A mutation and response to etanercept","volume":"167","author":"Jesus","year":"2008","journal-title":"Eur. J. Pediatr."},{"issue":"10","key":"10.1016\/j.clim.2013.03.016_bb0410","doi-asserted-by":"crossref","first-page":"1356","DOI":"10.1136\/ard.2003.016006","article-title":"Tumour necrosis factor receptor associated periodic syndrome (TRAPS) with central nervous system involvement","volume":"63","author":"Minden","year":"2004","journal-title":"Ann. Rheum. Dis."},{"issue":"2","key":"10.1016\/j.clim.2013.03.016_bb0415","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1046\/j.0902-4441.2001.469umedoc.469.x","article-title":"Periodic fever (TRAPS) caused by mutations in the TNFalpha receptor 1 (TNFRSF1A) gene of three German patients","volume":"67","author":"Rosen-Wolff","year":"2001","journal-title":"Eur. J. Haematol."},{"issue":"204","key":"10.1016\/j.clim.2013.03.016_bb0865","first-page":"469","volume":"51","author":"Williamson","year":"1982","journal-title":"Familial Hibernian fever. Q. J. Med."},{"issue":"7","key":"10.1016\/j.clim.2013.03.016_bb0420","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1136\/ard.2005.043570","article-title":"\u201cPeriodic fever\u201d without fever: two cases of non-febrile TRAPS with mutations in the TNFRSF1A gene presenting with episodes of inflammation or monosymptomatic amyloidosis","volume":"65","author":"Kallinich","year":"2006","journal-title":"Ann. Rheum. Dis."},{"issue":"2","key":"10.1016\/j.clim.2013.03.016_bb0425","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1007\/s00296-009-0937-0","article-title":"Tumor necrosis factor receptor 1-associated periodic syndrome without fever: cytokine profile before and during etanercept treatment","volume":"30","author":"Morbach","year":"2009","journal-title":"Rheumatol. Int."},{"issue":"2","key":"10.1016\/j.clim.2013.03.016_bb0430","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1086\/321976","article-title":"The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers","volume":"69","author":"Aksentijevich","year":"2001","journal-title":"Am. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.clim.2013.03.016_bb0435","doi-asserted-by":"crossref","first-page":"1320","DOI":"10.1182\/blood-2005-11-006783","article-title":"Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS)","volume":"108","author":"Lobito","year":"2006","journal-title":"Blood"},{"issue":"3","key":"10.1016\/j.clim.2013.03.016_bb0440","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1002\/art.33416","article-title":"Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome: a prospective, open-label, dose-escalation study","volume":"64","author":"Bulua","year":"2012","journal-title":"Arthritis Rheum."},{"issue":"7","key":"10.1016\/j.clim.2013.03.016_bb0445","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1093\/rheumatology\/kel298","article-title":"Failure of anti-TNF therapy in TNF receptor 1-associated periodic syndrome (TRAPS)","volume":"46","author":"Jacobelli","year":"2007","journal-title":"Rheumatology (Oxford)"},{"issue":"2","key":"10.1016\/j.clim.2013.03.016_bb0450","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1002\/art.24294","article-title":"Proinflammatory action of the antiinflammatory drug infliximab in tumor necrosis factor receptor-associated periodic syndrome","volume":"60","author":"Nedjai","year":"2009","journal-title":"Arthritis Rheum."},{"issue":"5","key":"10.1016\/j.clim.2013.03.016_bb0455","doi-asserted-by":"crossref","first-page":"1516","DOI":"10.1002\/art.23475","article-title":"Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome","volume":"58","author":"Gattorno","year":"2008","journal-title":"Arthritis Rheum."},{"issue":"2","key":"10.1016\/j.clim.2013.03.016_bb0465","first-page":"357","article-title":"Dramatic improvement following interleukin 1beta blockade in tumor necrosis factor receptor-1-associated syndrome (TRAPS) resistant to anti-TNF-alpha therapy","volume":"35","author":"Sacre","year":"2008"},{"issue":"9","key":"10.1016\/j.clim.2013.03.016_bb0470","doi-asserted-by":"crossref","first-page":"1692","DOI":"10.1136\/ard.2010.144279","article-title":"Failure of sustained response to etanercept and refractoriness to anakinra in patients with T50M TNF-receptor-associated periodic syndrome","volume":"70","author":"Quillinan","year":"2011","journal-title":"Ann. Rheum. Dis."},{"issue":"12","key":"10.1016\/j.clim.2013.03.016_bb0475","doi-asserted-by":"crossref","first-page":"3340","DOI":"10.1002\/art.10688","article-title":"De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases","volume":"46","author":"Aksentijevich","year":"2002","journal-title":"Arthritis Rheum."},{"issue":"4","key":"10.1016\/j.clim.2013.03.016_bb0480","doi-asserted-by":"crossref","first-page":"1273","DOI":"10.1002\/art.22491","article-title":"The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model","volume":"56","author":"Aksentijevich","year":"2007","journal-title":"Arthritis Rheum."},{"issue":"7","key":"10.1016\/j.clim.2013.03.016_bb0485","doi-asserted-by":"crossref","first-page":"2809","DOI":"10.1182\/blood-2003-07-2531","article-title":"Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA\/NOMID, MWS, and FCU","volume":"103","author":"Neven","year":"2004","journal-title":"Blood"},{"issue":"3","key":"10.1016\/j.clim.2013.03.016_bb0490","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1038\/ng756","article-title":"Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle\u2013Wells syndrome","volume":"29","author":"Hoffman","year":"2001","journal-title":"Nat. Genet."},{"issue":"11","key":"10.1016\/j.clim.2013.03.016_bb0495","doi-asserted-by":"crossref","first-page":"3579","DOI":"10.1002\/art.21404","article-title":"Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome","volume":"52","author":"Saito","year":"2005","journal-title":"Arthritis Rheum."},{"issue":"4","key":"10.1016\/j.clim.2013.03.016_bb0500","doi-asserted-by":"crossref","first-page":"2132","DOI":"10.1182\/blood-2007-06-094201","article-title":"Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients","volume":"111","author":"Saito","year":"2008","journal-title":"Blood"},{"issue":"4","key":"10.1016\/j.clim.2013.03.016_bb0505","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.1002\/art.27342","volume":"62","author":"Arostegui","year":"2010","journal-title":"Arthritis Rheum."},{"issue":"11","key":"10.1016\/j.clim.2013.03.016_bb0510","doi-asserted-by":"crossref","first-page":"3625","DOI":"10.1002\/art.30512","article-title":"High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study","volume":"63","author":"Tanaka","year":"2011","journal-title":"Arthritis Rheum."},{"issue":"12","key":"10.1016\/j.clim.2013.03.016_bb0515","doi-asserted-by":"crossref","first-page":"4045","DOI":"10.1002\/art.20633","article-title":"Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1\/PYPAF1\/NALP3 gene","volume":"50","author":"Arostegui","year":"2004","journal-title":"Arthritis Rheum."},{"issue":"11","key":"10.1016\/j.clim.2013.03.016_bb0520","doi-asserted-by":"crossref","first-page":"e49408","DOI":"10.1371\/journal.pone.0049408","article-title":"Homeostatic tissue responses in skin biopsies from NOMID patients with constitutive overproduction of IL-1beta","volume":"7","author":"Aubert","year":"2012","journal-title":"PLoS One"},{"issue":"9447","key":"10.1016\/j.clim.2013.03.016_bb0525","doi-asserted-by":"crossref","first-page":"1779","DOI":"10.1016\/S0140-6736(04)17401-1","article-title":"Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist","volume":"364","author":"Hoffman","year":"2004","journal-title":"Lancet"},{"issue":"4","key":"10.1016\/j.clim.2013.03.016_bb0530","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1067\/mai.2001.118790","article-title":"Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever","volume":"108","author":"Hoffman","year":"2001","journal-title":"J. Allergy Clin. Immunol."},{"issue":"6","key":"10.1016\/j.clim.2013.03.016_bb0535","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1185\/03007990802081543","article-title":"Familial cold auto-inflammatory syndrome (FCAS): characterization of symptomatology and impact on patients' lives","volume":"24","author":"Stych","year":"2008","journal-title":"Curr. Med. Res. Opin."},{"key":"10.1016\/j.clim.2013.03.016_bb0540","first-page":"235","article-title":"Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome","volume":"31","author":"Muckle","year":"1962","journal-title":"Q. J. Med."},{"issue":"6","key":"10.1016\/j.clim.2013.03.016_bb0545","doi-asserted-by":"crossref","first-page":"1498","DOI":"10.1086\/340786","article-title":"New mutations of CIAS1 that are responsible for Muckle\u2013Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes","volume":"70","author":"Dode","year":"2002","journal-title":"Am. J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.clim.2013.03.016_bb0550","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1002\/art.20033","article-title":"Spectrum of clinical features in Muckle\u2013Wells syndrome and response to anakinra","volume":"50","author":"Hawkins","year":"2004","journal-title":"Arthritis Rheum."},{"issue":"1","key":"10.1016\/j.clim.2013.03.016_bb0555","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1002\/art.25057","article-title":"Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease\/chronic infantile neurologic, cutaneous, articular syndrome","volume":"62","author":"Neven","year":"2010","journal-title":"Arthritis Rheum."},{"issue":"9","key":"10.1016\/j.clim.2013.03.016_bb0560","doi-asserted-by":"crossref","first-page":"2445","DOI":"10.1002\/art.10509","article-title":"Association of mutations in the NALP3\/CIAS1\/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis","volume":"46","author":"Aganna","year":"2002","journal-title":"Arthritis Rheum."},{"issue":"1","key":"10.1016\/j.clim.2013.03.016_bb0565","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/S0022-3476(81)80961-4","article-title":"Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation","volume":"99","author":"Prieur","year":"1981","journal-title":"J. Pediatr."},{"issue":"6","key":"10.1016\/j.clim.2013.03.016_bb0570","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1056\/NEJMoa055137","article-title":"Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition","volume":"355","author":"Goldbach-Mansky","year":"2006","journal-title":"N. Engl. J. Med."},{"issue":"7","key":"10.1016\/j.clim.2013.03.016_bb0580","doi-asserted-by":"crossref","first-page":"2375","DOI":"10.1002\/art.34409","article-title":"Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: a cohort study to determine three- and five-year outcomes","volume":"64","author":"Sibley","year":"2012","journal-title":"Arthritis Rheum."},{"issue":"2","key":"10.1016\/j.clim.2013.03.016_bb0585","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1007\/s00247-006-0358-0","article-title":"Arthropathy of neonatal onset multisystem inflammatory disease (NOMID\/CINCA)","volume":"37","author":"Hill","year":"2007","journal-title":"Pediatr. Radiol."},{"issue":"6","key":"10.1016\/j.clim.2013.03.016_bb0590","doi-asserted-by":"crossref","first-page":"R202","DOI":"10.1186\/ar3535","article-title":"Sustained remission of symptoms and improved health-related quality of life in patients with cryopyrin-associated periodic syndrome treated with canakinumab: results of a double-blind placebo-controlled randomized withdrawal study","volume":"13","author":"Kone-Paut","year":"2011","journal-title":"Arthritis Res. Ther."},{"issue":"8","key":"10.1016\/j.clim.2013.03.016_bb0595","doi-asserted-by":"crossref","first-page":"2443","DOI":"10.1002\/art.23687","article-title":"Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrin-associated periodic syndromes: results from two sequential placebo-controlled studies","volume":"58","author":"Hoffman","year":"2008","journal-title":"Arthritis Rheum."},{"issue":"10","key":"10.1016\/j.clim.2013.03.016_bb0600","doi-asserted-by":"crossref","first-page":"2091","DOI":"10.1016\/j.clinthera.2012.09.009","article-title":"Long-term efficacy and safety profile of rilonacept in the treatment of cryopryin-associated periodic syndromes: results of a 72-week open-label extension study","volume":"34","author":"Hoffman","year":"2012","journal-title":"Clin. Ther."},{"issue":"8","key":"10.1016\/j.clim.2013.03.016_bb0605","doi-asserted-by":"crossref","first-page":"2432","DOI":"10.1002\/art.23620","article-title":"A pilot study to evaluate the safety and efficacy of the long-acting interleukin-1 inhibitor rilonacept (interleukin-1 Trap) in patients with familial cold autoinflammatory syndrome","volume":"58","author":"Goldbach-Mansky","year":"2008","journal-title":"Arthritis Rheum."},{"issue":"23","key":"10.1016\/j.clim.2013.03.016_bb0610","doi-asserted-by":"crossref","first-page":"2416","DOI":"10.1056\/NEJMoa0810787","article-title":"Use of canakinumab in the cryopyrin-associated periodic syndrome","volume":"360","author":"Lachmann","year":"2009","journal-title":"N. Engl. J. Med."},{"issue":"2","key":"10.1016\/j.clim.2013.03.016_bb0615","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.jpeds.2010.02.040","article-title":"Follow-up and quality of life of patients with cryopyrin-associated periodic syndromes treated with Anakinra","volume":"157","author":"Lepore","year":"2010","journal-title":"J. Pediatr."},{"issue":"12","key":"10.1016\/j.clim.2013.03.016_bb0625","doi-asserted-by":"crossref","first-page":"2095","DOI":"10.1136\/ard.2011.152728","article-title":"Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes","volume":"70","author":"Kuemmerle-Deschner","year":"2011","journal-title":"Ann. Rheum. Dis."},{"issue":"2","key":"10.1016\/j.clim.2013.03.016_bb0630","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1067\/S0190-9622(02)61772-4","article-title":"Blau syndrome: a new kindred","volume":"49","author":"Alonso","year":"2003","journal-title":"J. Am. Acad. Dermatol."},{"issue":"6","key":"10.1016\/j.clim.2013.03.016_bb0635","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.1002\/art.24533","article-title":"NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain","volume":"60","author":"Rose","year":"2009","journal-title":"Arthritis Rheum."},{"issue":"5","key":"10.1016\/j.clim.2013.03.016_bb0640","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1097\/BOR.0b013e328349c430","article-title":"Blau syndrome revisited","volume":"23","author":"Rose","year":"2011","journal-title":"Curr. Opin. Rheumatol."},{"issue":"10","key":"10.1016\/j.clim.2013.03.016_bb0645","doi-asserted-by":"crossref","first-page":"3337","DOI":"10.1002\/art.22122","article-title":"Pediatric granulomatous arthritis: an international registry","volume":"54","author":"Rose","year":"2006","journal-title":"Arthritis Rheum."},{"issue":"11","key":"10.1016\/j.clim.2013.03.016_bb0650","doi-asserted-by":"crossref","first-page":"3805","DOI":"10.1002\/art.22966","article-title":"NOD2 gene-associated pediatric granulomatous arthritis: clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort","volume":"56","author":"Arostegui","year":"2007","journal-title":"Arthritis Rheum."},{"issue":"6","key":"10.1016\/j.clim.2013.03.016_bb0655","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1007\/s11926-005-0046-3","article-title":"Blau syndrome and related genetic disorders causing childhood arthritis","volume":"7","author":"Becker","year":"2005","journal-title":"Curr. Rheumatol. Rep."},{"issue":"23","key":"10.1016\/j.clim.2013.03.016_bb0660","doi-asserted-by":"crossref","first-page":"2426","DOI":"10.1056\/NEJMoa0807865","article-title":"An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist","volume":"360","author":"Aksentijevich","year":"2009","journal-title":"N. Engl. J. Med."},{"issue":"23","key":"10.1016\/j.clim.2013.03.016_bb0665","doi-asserted-by":"crossref","first-page":"2438","DOI":"10.1056\/NEJMoa0809568","article-title":"An autoinflammatory disease due to homozygous deletion of the IL1RN locus","volume":"360","author":"Reddy","year":"2009","journal-title":"N. Engl. J. Med."},{"issue":"1","key":"10.1016\/j.clim.2013.03.016_bb0670","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.clim.2012.08.003","article-title":"A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset","volume":"145","author":"Altiok","year":"2012","journal-title":"Clin. Immunol."},{"issue":"12","key":"10.1016\/j.clim.2013.03.016_bb0675","doi-asserted-by":"crossref","first-page":"4007","DOI":"10.1002\/art.30588","article-title":"A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil","volume":"63","author":"Jesus","year":"2011","journal-title":"Arthritis Rheum."},{"issue":"12","key":"10.1016\/j.clim.2013.03.016_bb0680","doi-asserted-by":"crossref","first-page":"4018","DOI":"10.1002\/art.30565","article-title":"The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist","volume":"63","author":"Stenerson","year":"2011","journal-title":"Arthritis Rheum."},{"key":"10.1016\/j.clim.2013.03.016_bb0685","first-page":"1","article-title":"Deficiency of interleukin-1 receptor antagonist responsive to anakinra","author":"Schnellbacher","year":"2012","journal-title":"Pediatr. Dermatol."},{"issue":"3","key":"10.1016\/j.clim.2013.03.016_bb0690","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1001\/archdermatol.2011.2857","article-title":"Chronic cutaneous pustulosis due to a 175-kb deletion on chromosome 2q13: excellent response to anakinra","volume":"148","author":"Brau-Javier","year":"2012","journal-title":"Arch. Dermatol."},{"issue":"5","key":"10.1016\/j.clim.2013.03.016_bb0695","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1097\/BOR.0b013e32825f5492","article-title":"Autoinflammatory bone disorders","volume":"19","author":"Ferguson","year":"2007","journal-title":"Curr. Opin. Rheumatol."},{"issue":"7","key":"10.1016\/j.clim.2013.03.016_bb0700","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1136\/jmg.2005.030759","article-title":"Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)","volume":"42","author":"Ferguson","year":"2005","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.clim.2013.03.016_bb0705","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1097\/BLO.0b013e3180986d73","article-title":"Chronic recurrent multifocal osteomyelitis: a concise review and genetic update","volume":"462","author":"El-Shanti","year":"2007","journal-title":"Clin. Orthop. Relat. Res."},{"issue":"12","key":"10.1016\/j.clim.2013.03.016_bb0710","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1007\/s004310100799","article-title":"The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review","volume":"160","author":"Majeed","year":"2001","journal-title":"Eur. J. Pediatr."},{"issue":"3","key":"10.1016\/j.clim.2013.03.016_bb0715","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1136\/annrheumdis-2012-201818","article-title":"Efficacy of anti-IL-1 treatment in Majeed syndrome","volume":"72","author":"Herlin","year":"2012","journal-title":"Ann. Rheum. Dis."},{"issue":"8","key":"10.1016\/j.clim.2013.03.016_bb0720","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1093\/hmg\/11.8.961","article-title":"Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder","volume":"11","author":"Wise","year":"2002","journal-title":"Hum. Mol. Genet."},{"issue":"7","key":"10.1016\/j.clim.2013.03.016_bb0725","doi-asserted-by":"crossref","first-page":"519","DOI":"10.2174\/138920210793175921","article-title":"Clinical, molecular, and genetic characteristics of PAPA syndrome: a review","volume":"11","author":"Smith","year":"2010","journal-title":"Curr. Genomics"},{"issue":"6","key":"10.1016\/j.clim.2013.03.016_bb0730","doi-asserted-by":"crossref","first-page":"2022","DOI":"10.1002\/art.34332","article-title":"Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne)","volume":"64","author":"Demidowich","year":"2012","journal-title":"Arthritis Rheum."},{"issue":"5","key":"10.1016\/j.clim.2013.03.016_bb0735","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1097\/RHU.0b013e3181e969b9","article-title":"Clinical efficacy of etanercept for treatment of PAPA syndrome","volume":"16","author":"Tofteland","year":"2010","journal-title":"J. Clin. Rheumatol."},{"issue":"6","key":"10.1016\/j.clim.2013.03.016_bb0740","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1016\/j.jpeds.2004.08.001","article-title":"Abnormal production of tumor necrosis factor (TNF) \u2014 alpha and clinical efficacy of the TNF inhibitor etanercept in a patient with PAPA syndrome [corrected]","volume":"145","author":"Cortis","year":"2004","journal-title":"J. Pediatr."},{"issue":"21","key":"10.1016\/j.clim.2013.03.016_bb0745","doi-asserted-by":"crossref","first-page":"2033","DOI":"10.1056\/NEJMoa0907206","article-title":"Inflammatory bowel disease and mutations affecting the interleukin-10 receptor","volume":"361","author":"Glocker","year":"2009","journal-title":"N. Engl. J. Med."},{"issue":"9748","key":"10.1016\/j.clim.2013.03.016_bb0750","doi-asserted-by":"crossref","first-page":"1272","DOI":"10.1016\/S0140-6736(10)61008-2","article-title":"Infant colitis\u2014it's in the genes","volume":"376","author":"Glocker","year":"2010","journal-title":"Lancet"},{"issue":"2","key":"10.1016\/j.clim.2013.03.016_bb0755","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1053\/j.gastro.2012.04.045","article-title":"Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy","volume":"143","author":"Kotlarz","year":"2012","journal-title":"Gastroenterology"},{"issue":"3","key":"10.1016\/j.clim.2013.03.016_bb0760","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1016\/j.jaci.2012.09.025","article-title":"Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation","volume":"131","author":"Engelhardt","year":"2013","journal-title":"J. Allergy Clin. Immunol."},{"issue":"1","key":"10.1016\/j.clim.2013.03.016_bb0765","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1007\/s00018-011-0837-9","article-title":"Inflammatory bowel disease: is it a primary immunodeficiency?","volume":"69","author":"Glocker","year":"2012","journal-title":"Cell. Mol. Life Sci."},{"issue":"7","key":"10.1016\/j.clim.2013.03.016_bb0770","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1056\/NEJMoa1013068","article-title":"Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis","volume":"365","author":"Marrakchi","year":"2011","journal-title":"N. Engl. J. Med."},{"issue":"3","key":"10.1016\/j.clim.2013.03.016_bb0775","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/j.ajhg.2011.07.022","article-title":"Mutations in IL36RN\/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis","volume":"89","author":"Onoufriadis","year":"2011","journal-title":"Am. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.clim.2013.03.016_bb0780","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1016\/j.ajhg.2012.03.012","article-title":"PSORS2 is due to mutations in CARD14","volume":"90","author":"Jordan","year":"2012","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.clim.2013.03.016_bb0785","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.ajhg.2012.05.010","article-title":"Familial pityriasis rubra pilaris is caused by mutations in CARD14","volume":"91","author":"Fuchs-Telem","year":"2012","journal-title":"Am. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.clim.2013.03.016_bb0790","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1016\/j.ajhg.2012.03.013","article-title":"Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis","volume":"90","author":"Jordan","year":"2012","journal-title":"Am. J. Hum. Genet."},{"issue":"7","key":"10.1016\/j.clim.2013.03.016_bb0810","first-page":"844","article-title":"Familial pityriasis rubra pilaris: report of a family and therapeutic response to etanercept","volume":"9","author":"Vasher","year":"2010","journal-title":"J. Drugs Dermatol."},{"issue":"3","key":"10.1016\/j.clim.2013.03.016_bb0815","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/j.jaad.2009.04.046","article-title":"Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome","volume":"62","author":"Torrelo","year":"2010","journal-title":"J. Am. Acad. Dermatol."},{"issue":"6","key":"10.1016\/j.clim.2013.03.016_bb0820","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1016\/j.ajhg.2010.10.031","article-title":"PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome","volume":"87","author":"Agarwal","year":"2010","journal-title":"Am. J. Hum. Genet."},{"issue":"36","key":"10.1016\/j.clim.2013.03.016_bb0825","doi-asserted-by":"crossref","first-page":"14914","DOI":"10.1073\/pnas.1106015108","article-title":"Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo\u2013Nishimura syndrome","volume":"108","author":"Arima","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"10","key":"10.1016\/j.clim.2013.03.016_bb0830","doi-asserted-by":"crossref","first-page":"4150","DOI":"10.1172\/JCI58414","article-title":"A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans","volume":"121","author":"Kitamura","year":"2011","journal-title":"J. Clin. Invest."},{"issue":"3","key":"10.1016\/j.clim.2013.03.016_bb0835","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1002\/art.33368","article-title":"Mutations in proteasome subunit beta type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity","volume":"64","author":"Liu","year":"2012","journal-title":"Arthritis Rheum."},{"issue":"5","key":"10.1016\/j.clim.2013.03.016_bb0840","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1111\/j.1525-1470.2010.01163.x","article-title":"Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a case report","volume":"28","author":"Ramot","year":"2011","journal-title":"Pediatr. Dermatol."},{"issue":"4","key":"10.1016\/j.clim.2013.03.016_bb0845","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1056\/NEJMoa1102140","article-title":"Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions","volume":"366","author":"Ombrello","year":"2012","journal-title":"N. Engl. J. Med."},{"issue":"4","key":"10.1016\/j.clim.2013.03.016_bb0850","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1016\/j.ajhg.2012.08.006","article-title":"A hypermorphic missense mutation in PLCG2, encoding phospholipase Cgamma2, causes a dominantly inherited autoinflammatory disease with immunodeficiency","volume":"91","author":"Zhou","year":"2012","journal-title":"Am. J. Hum. Genet."},{"issue":"12","key":"10.1016\/j.clim.2013.03.016_bb0855","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1038\/ni.2457","article-title":"Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency","volume":"13","author":"Boisson","year":"2012","journal-title":"Nat. Immunol."}],"container-title":["Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661613000922?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661613000922?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,4,30]],"date-time":"2025-04-30T03:50:33Z","timestamp":1745985033000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521661613000922"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6]]},"references-count":156,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,6]]}},"alternative-id":["S1521661613000922"],"URL":"https:\/\/doi.org\/10.1016\/j.clim.2013.03.016","relation":{},"ISSN":["1521-6616"],"issn-type":[{"value":"1521-6616","type":"print"}],"subject":[],"published":{"date-parts":[[2013,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Monogenic autoinflammatory diseases: Concept and clinical manifestations","name":"articletitle","label":"Article Title"},{"value":"Clinical Immunology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clim.2013.03.016","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}