{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T18:11:28Z","timestamp":1793211088736,"version":"4.5.0"},"reference-count":146,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jacionline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Allergy and Clinical Immunology"],"published-print":{"date-parts":[[2020,11]]},"DOI":"10.1016\/j.jaci.2020.08.017","type":"journal-article","created":{"date-parts":[[2020,11,4]],"date-time":"2020-11-04T21:03:11Z","timestamp":1604523791000},"page":"925-937","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":150,"title":["Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach"],"prefix":"10.1016","volume":"146","author":[{"given":"Peter A.","family":"Nigrovic","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pui Y.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hal M.","family":"Hoffman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaci.2020.08.017_bib1","series-title":"Collected studies on immunity","first-page":"71","article-title":"Studies on haemolysins: fifth communication (Berlin. klinischer Wochenschrift 1901)","author":"Ehrlich","year":"1910"},{"key":"10.1016\/j.jaci.2020.08.017_bib2","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1038\/86280","article-title":"Autoimmunity versus horror autotoxicus: the struggle for recognition","volume":"2","author":"Silverstein","year":"2001","journal-title":"Nat Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib3","doi-asserted-by":"crossref","first-page":"408","DOI":"10.4049\/jimmunol.76.6.408","article-title":"Studies on organ specificity, IV: production of rabbit thyroid antibodies in the rabbit","volume":"76","author":"Witebsky","year":"1956","journal-title":"J Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib4","doi-asserted-by":"crossref","first-page":"417","DOI":"10.4049\/jimmunol.76.6.417","article-title":"Studies on organ specificity, V: changes in the thyroid glands of rabbits following active immunization with rabbit thyroid extracts","volume":"76","author":"Rose","year":"1956","journal-title":"J Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib5","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/S1568-9972(03)00006-5","article-title":"The epidemiology of autoimmune diseases","volume":"2","author":"Cooper","year":"2003","journal-title":"Autoimmun Rev"},{"key":"10.1016\/j.jaci.2020.08.017_bib6","series-title":"Kelley and Firestein\u2019s textbook of rheumatology. Philadelphia (PA): Elsevier","article-title":"Innate immunity","author":"Porcelli","year":"2017"},{"key":"10.1016\/j.jaci.2020.08.017_bib7","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1038\/s41577-018-0003-9","article-title":"A cold-blooded view of adaptive immunity","volume":"18","author":"Flajnik","year":"2018","journal-title":"Nat Rev Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib8","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":"Consortium","year":"1997","journal-title":"Cell"},{"key":"10.1016\/j.jaci.2020.08.017_bib9","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/ng0997-25","article-title":"A candidate gene for familial Mediterranean fever","volume":"17","author":"Consortium","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2020.08.017_bib10","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 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes","volume":"97","author":"McDermott","year":"1999","journal-title":"Cell"},{"key":"10.1016\/j.jaci.2020.08.017_bib11","doi-asserted-by":"crossref","first-page":"1669","DOI":"10.1172\/JCI129301","article-title":"Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases","volume":"130","author":"de Jesus","year":"2020","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2020.08.017_bib12","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1016\/j.jaci.2015.04.016","article-title":"Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases","volume":"136","author":"Holzinger","year":"2015","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib13","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1084\/jem.20161228","article-title":"Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1","volume":"214","author":"Standing","year":"2017","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2020.08.017_bib14","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1084\/jem.20161452","article-title":"Lipin-2 regulates NLRP3 inflammasome by affecting P2X7 receptor activation","volume":"214","author":"Lorden","year":"2017","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2020.08.017_bib15","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.1136\/annrheumdis-2016-210021","article-title":"A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis)","volume":"76","author":"Grandemange","year":"2017","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jaci.2020.08.017_bib16","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1016\/j.ajhg.2018.04.010","article-title":"Heterozygous truncating variants in POMP escape nonsense-mediated decay and cause a unique immune dysregulatory syndrome","volume":"102","author":"Poli","year":"2018","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2020.08.017_bib17","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1038\/ng.748","article-title":"Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature","volume":"43","author":"Briggs","year":"2011","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2020.08.017_bib18","doi-asserted-by":"crossref","first-page":"1937","DOI":"10.1084\/jem.20160724","article-title":"Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration","volume":"214","author":"Badran","year":"2017","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2020.08.017_bib19","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1084\/jem.20141130","article-title":"Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia","volume":"212","author":"Boisson","year":"2015","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2020.08.017_bib20","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"},{"key":"10.1016\/j.jaci.2020.08.017_bib21","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1038\/s41586-019-1828-5","article-title":"Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease","volume":"577","author":"Lalaoui","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2020.08.017_bib22","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1038\/s41586-019-1830-y","article-title":"A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1","volume":"577","author":"Tao","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2020.08.017_bib23","doi-asserted-by":"crossref","first-page":"2867","DOI":"10.1182\/blood-2014-08-591370","article-title":"Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)","volume":"124","author":"Chakraborty","year":"2014","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2020.08.017_bib24","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1002\/art.38877","article-title":"Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis","volume":"67","author":"Wakil","year":"2015","journal-title":"Arthritis Rheumatol"},{"key":"10.1016\/j.jaci.2020.08.017_bib25","doi-asserted-by":"crossref","first-page":"4525","DOI":"10.1016\/j.celrep.2019.11.105","article-title":"LACC1 required for NOD2-induced, ER stress-mediated innate immune outcomes in human macrophages and LACC1 risk variants modulate these outcomes","volume":"29","author":"Huang","year":"2019","journal-title":"Cell Rep"},{"key":"10.1016\/j.jaci.2020.08.017_bib26","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"},{"key":"10.1016\/j.jaci.2020.08.017_bib27","doi-asserted-by":"crossref","first-page":"1100","DOI":"10.1053\/j.gastro.2016.08.055","article-title":"Interleukin 1beta mediates intestinal inflammation in mice and patients with interleukin 10 receptor deficiency","volume":"151","author":"Shouval","year":"2016","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jaci.2020.08.017_bib28","doi-asserted-by":"crossref","first-page":"14816","DOI":"10.1038\/ncomms14816","article-title":"Loss of the Arp2\/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease","volume":"8","author":"Kahr","year":"2017","journal-title":"Nat Commun"},{"key":"10.1016\/j.jaci.2020.08.017_bib29","doi-asserted-by":"crossref","first-page":"2296","DOI":"10.1016\/j.jaci.2019.02.003","article-title":"A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency","volume":"143","author":"Volpi","year":"2019","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib30","doi-asserted-by":"crossref","first-page":"2778","DOI":"10.1084\/jem.20190147","article-title":"A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function","volume":"216","author":"Lam","year":"2019","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2020.08.017_bib31","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1016\/j.jaci.2019.06.017","article-title":"Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1beta inhibition","volume":"144","author":"Gernez","year":"2019","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib32","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.jaci.2016.05.001","article-title":"The role of the inflammasome in patients with autoinflammatory diseases","volume":"138","author":"Hoffman","year":"2016","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib33","doi-asserted-by":"crossref","first-page":"1745","DOI":"10.3389\/fimmu.2019.01745","article-title":"The pyrin inflammasome in health and disease","volume":"10","author":"Schnappauf","year":"2019","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib34","doi-asserted-by":"crossref","first-page":"9789","DOI":"10.1073\/pnas.1000779107","article-title":"Altered redox state of monocytes from cryopyrin-associated periodic syndromes causes accelerated IL-1beta secretion","volume":"107","author":"Tassi","year":"2010","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jaci.2020.08.017_bib35","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.molcel.2017.08.017","article-title":"NLRP3 phosphorylation is an essential priming event for inflammasome activation","volume":"68","author":"Song","year":"2017","journal-title":"Mol Cell"},{"key":"10.1016\/j.jaci.2020.08.017_bib36","doi-asserted-by":"crossref","first-page":"1793","DOI":"10.1172\/JCI98642","article-title":"Loss-of-function CARD8 mutation causes NLRP3 inflammasome activation and Crohn\u2019s disease","volume":"128","author":"Mao","year":"2018","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2020.08.017_bib37","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.cell.2016.09.001","article-title":"Germline NLRP1 mutations cause skin inflammatory and cancer susceptibility syndromes via inflammasome activation","volume":"167","author":"Zhong","year":"2016","journal-title":"Cell"},{"key":"10.1016\/j.jaci.2020.08.017_bib38","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1002\/art.24569","article-title":"Familial Mediterranean fever with a single MEFV mutation: where is the second hit?","volume":"60","author":"Booty","year":"2009","journal-title":"Arthritis Rheum"},{"key":"10.1016\/j.jaci.2020.08.017_bib39","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1016\/j.immuni.2011.02.020","article-title":"Gain-of-function pyrin mutations induce NLRP3 protein-independent interleukin-1beta activation and severe autoinflammation in mice","volume":"34","author":"Chae","year":"2011","journal-title":"Immunity"},{"key":"10.1016\/j.jaci.2020.08.017_bib40","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1016\/j.chom.2016.07.018","article-title":"The Yersinia virulence factor YopM hijacks host kinases to inhibit type III effector-triggered activation of the pyrin inflammasome","volume":"20","author":"Chung","year":"2016","journal-title":"Cell Host Microbe"},{"key":"10.1016\/j.jaci.2020.08.017_bib41","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1038\/s41590-020-0705-6","article-title":"Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis","volume":"21","author":"Park","year":"2020","journal-title":"Nat Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib42","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.aaf1471","article-title":"Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation","volume":"8","author":"Masters","year":"2016","journal-title":"Sci Transl Med"},{"key":"10.1016\/j.jaci.2020.08.017_bib43","doi-asserted-by":"crossref","first-page":"1908","DOI":"10.1056\/NEJMoa1706314","article-title":"Canakinumab for the treatment of autoinflammatory recurrent fever syndromes","volume":"378","author":"De Benedetti","year":"2018","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2020.08.017_bib44","doi-asserted-by":"crossref","first-page":"2085","DOI":"10.1136\/annrheumdis-2017-211473","article-title":"A novel pyrin-associated autoinflammation with neutrophilic dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to familial Mediterranean fever","volume":"76","author":"Moghaddas","year":"2017","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jaci.2020.08.017_bib45","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1038\/ni.3457","article-title":"Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS","volume":"17","author":"Park","year":"2016","journal-title":"Nat Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib46","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1111\/bjd.14691","article-title":"Pyoderma gangrenosum and its syndromic forms: evidence for a link with autoinflammation","volume":"175","author":"Marzano","year":"2016","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jaci.2020.08.017_bib47","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1111\/j.1365-2133.2009.09404.x","article-title":"Targeted treatment of pyoderma gangrenosum in PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) syndrome with the recombinant human interleukin-1 receptor antagonist anakinra","volume":"161","author":"Brenner","year":"2009","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jaci.2020.08.017_bib48","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1007\/s10875-019-00638-z","article-title":"CAPS and NLRP3","volume":"39","author":"Booshehri","year":"2019","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib49","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1038\/s41467-019-13984-8","article-title":"Cold-induced urticarial autoinflammatory syndrome related to factor XII activation","volume":"11","author":"Scheffel","year":"2020","journal-title":"Nat Commun"},{"key":"10.1016\/j.jaci.2020.08.017_bib50","doi-asserted-by":"crossref","first-page":"1140","DOI":"10.1038\/ng.3089","article-title":"An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome","volume":"46","author":"Canna","year":"2014","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2020.08.017_bib51","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1038\/ni.3487","article-title":"Control of the innate immune response by the mevalonate pathway","volume":"17","author":"Akula","year":"2016","journal-title":"Nat Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib52","doi-asserted-by":"crossref","first-page":"1698","DOI":"10.1016\/j.jaci.2016.10.022","article-title":"Life-threatening NLRC4-associated hyperinflammation successfully treated with IL-18 inhibition","volume":"139","author":"Canna","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib53","doi-asserted-by":"crossref","first-page":"1614","DOI":"10.1073\/pnas.0708616105","article-title":"Mutations in NALP12 cause hereditary periodic fever syndromes","volume":"105","author":"Jeru","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jaci.2020.08.017_bib54","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/j.immuni.2012.07.006","article-title":"The NLRP12 inflammasome recognizes Yersinia pestis","volume":"37","author":"Vladimer","year":"2012","journal-title":"Immunity"},{"key":"10.1016\/j.jaci.2020.08.017_bib55","doi-asserted-by":"crossref","first-page":"2142","DOI":"10.1002\/art.30378","article-title":"Role of interleukin-1beta in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy","volume":"63","author":"Jeru","year":"2011","journal-title":"Arthritis Rheum"},{"key":"10.1016\/j.jaci.2020.08.017_bib56","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"},{"key":"10.1016\/j.jaci.2020.08.017_bib57","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"},{"key":"10.1016\/j.jaci.2020.08.017_bib58","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1146\/annurev-med-061512-150641","article-title":"IL-1 blockade in autoinflammatory syndromes","volume":"65","author":"Jesus","year":"2014","journal-title":"Annu Rev Med"},{"key":"10.1016\/j.jaci.2020.08.017_bib59","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"},{"key":"10.1016\/j.jaci.2020.08.017_bib60","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"},{"key":"10.1016\/j.jaci.2020.08.017_bib61","doi-asserted-by":"crossref","first-page":"1811","DOI":"10.1016\/j.jid.2016.04.038","article-title":"IL36RN mutations affect protein expression and function: a basis for genotype-phenotype correlation in pustular diseases","volume":"136","author":"Tauber","year":"2016","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jaci.2020.08.017_bib62","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/s12969-019-0338-1","article-title":"Scoping review of biological treatment of deficiency of interleukin-36 receptor antagonist (DITRA) in children and adolescents","volume":"17","author":"Hospach","year":"2019","journal-title":"Pediatr Rheumatol Online J"},{"key":"10.1016\/j.jaci.2020.08.017_bib63","doi-asserted-by":"crossref","first-page":"e1043","DOI":"10.1542\/peds.2012-3935","article-title":"First clinical description of an infant with interleukin-36-receptor antagonist deficiency successfully treated with anakinra","volume":"132","author":"Rossi-Semerano","year":"2013","journal-title":"Pediatrics"},{"key":"10.1016\/j.jaci.2020.08.017_bib64","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1146\/annurev-immunol-042718-041257","article-title":"Self-awareness: nucleic acid-driven inflammation and the type I interferonopathies","volume":"37","author":"Uggenti","year":"2019","journal-title":"Annu Rev Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib65","series-title":"GeneReviews((R)); Seattle (WA): University of Washington","article-title":"Aicardi-Goutieres syndrome","author":"Crow","year":"1993"},{"key":"10.1016\/j.jaci.2020.08.017_bib66","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1111\/j.1600-0560.2007.00900.x","article-title":"Cutaneous histopathological findings of Aicardi-Goutieres syndrome, overlap with chilblain lupus","volume":"35","author":"Kolivras","year":"2008","journal-title":"J Cutan Pathol"},{"key":"10.1016\/j.jaci.2020.08.017_bib67","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1038\/nri3850","article-title":"Aicardi-Goutieres syndrome and the type I interferonopathies","volume":"15","author":"Crow","year":"2015","journal-title":"Nat Rev Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib68","doi-asserted-by":"crossref","first-page":"2496","DOI":"10.3389\/fimmu.2018.02496","article-title":"Monogenic lupus: a developing paradigm of disease","volume":"9","author":"Alperin","year":"2018","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib69","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1212\/WNL.0000000000004921","article-title":"An open-label trial of JAK 1\/2 blockade in progressive IFIH1-associated neuroinflammation","volume":"90","author":"Kothur","year":"2018","journal-title":"Neurology"},{"key":"10.1016\/j.jaci.2020.08.017_bib70","doi-asserted-by":"crossref","first-page":"3041","DOI":"10.1172\/JCI98814","article-title":"JAK1\/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies","volume":"128","author":"Sanchez","year":"2018","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2020.08.017_bib71","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1136\/annrheumdis-2018-214037","article-title":"Efficacy of JAK1\/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency","volume":"78","author":"Briand","year":"2019","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jaci.2020.08.017_bib72","doi-asserted-by":"crossref","first-page":"2275","DOI":"10.1056\/NEJMc1810983","article-title":"Reverse-transcriptase inhibitors in the Aicardi-Goutieres syndrome","volume":"379","author":"Rice","year":"2018","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2020.08.017_bib73","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1016\/j.immuni.2011.05.003","article-title":"Immune signaling by RIG-I-like receptors","volume":"34","author":"Loo","year":"2011","journal-title":"Immunity"},{"key":"10.1016\/j.jaci.2020.08.017_bib74","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/j.ymgme.2018.09.004","article-title":"Aicardi goutieres syndrome is associated with pulmonary hypertension","volume":"125","author":"Adang","year":"2018","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jaci.2020.08.017_bib75","doi-asserted-by":"crossref","first-page":"2081","DOI":"10.1002\/art.40179","article-title":"Musculoskeletal disease in MDA5-related type I interferonopathy: a Mendelian mimic of Jaccoud\u2019s arthropathy","volume":"69","author":"de Carvalho","year":"2017","journal-title":"Arthritis Rheumatol"},{"key":"10.1016\/j.jaci.2020.08.017_bib76","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1016\/j.ajhg.2014.11.019","article-title":"Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome","volume":"96","author":"Jang","year":"2015","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2020.08.017_bib77","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s10875-018-0572-1","article-title":"DDX58 and classic Singleton-Merten syndrome","volume":"39","author":"Ferreira","year":"2019","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib78","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1056\/NEJMoa1312625","article-title":"Activated STING in a vascular and pulmonary syndrome","volume":"371","author":"Liu","year":"2014","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2020.08.017_bib79","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1007\/s10875-019-00645-0","article-title":"Efficacy and adverse events during Janus kinase inhibitor treatment of SAVI syndrome","volume":"39","author":"Volpi","year":"2019","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib80","doi-asserted-by":"crossref","first-page":"4196","DOI":"10.1172\/JCI81260","article-title":"Additive loss-of-function proteasome subunit mutations in CANDLE\/PRAAS patients promote type I IFN production","volume":"125","author":"Brehm","year":"2015","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2020.08.017_bib81","doi-asserted-by":"crossref","first-page":"927","DOI":"10.3389\/fimmu.2017.00927","article-title":"CANDLE syndrome as a paradigm of proteasome-related autoinflammation","volume":"8","author":"Torrelo","year":"2017","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib82","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"},{"key":"10.1016\/j.jaci.2020.08.017_bib83","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"},{"key":"10.1016\/j.jaci.2020.08.017_bib84","doi-asserted-by":"crossref","first-page":"1939","DOI":"10.1016\/j.jaci.2018.12.1012","article-title":"Novel proteasome assembly chaperone mutations in PSMG2\/PAC2 cause the autoinflammatory interferonopathy CANDLE\/PRAAS4","volume":"143","author":"de Jesus","year":"2019","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib85","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1084\/jem.20151529","article-title":"Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome","volume":"213","author":"Meuwissen","year":"2016","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2020.08.017_bib86","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1038\/nature13801","article-title":"Human intracellular ISG15 prevents interferon-alpha\/beta over-amplification and auto-inflammation","volume":"517","author":"Zhang","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2020.08.017_bib87","doi-asserted-by":"crossref","DOI":"10.1126\/sciimmunol.aav7501","article-title":"Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2","volume":"4","author":"Duncan","year":"2019","journal-title":"Sci Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib88","doi-asserted-by":"crossref","DOI":"10.1084\/jem.20192319","article-title":"Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy","volume":"217","author":"Gruber","year":"2020","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2020.08.017_bib89","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1056\/NEJMoa1905633","article-title":"JAK inhibitor therapy in a child with inherited USP18 deficiency","volume":"382","author":"Alsohime","year":"2020","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2020.08.017_bib90","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.cell.2016.12.012","article-title":"30 Years of NF-kappaB: a blossoming of relevance to human pathobiology","volume":"168","author":"Zhang","year":"2017","journal-title":"Cell"},{"key":"10.1016\/j.jaci.2020.08.017_bib91","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1038\/nri.2017.52","article-title":"The non-canonical NF-kappaB pathway in immunity and inflammation","volume":"17","author":"Sun","year":"2017","journal-title":"Nat Rev Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib92","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1007\/s11926-018-0749-x","article-title":"An update on autoinflammatory diseases: Relopathies","volume":"20","author":"Steiner","year":"2018","journal-title":"Curr Rheumatol Rep"},{"key":"10.1016\/j.jaci.2020.08.017_bib93","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/j.smim.2014.05.004","article-title":"Regulation of NF-kappaB by TNF family cytokines","volume":"26","author":"Hayden","year":"2014","journal-title":"Semin Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib94","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1038\/ng.3459","article-title":"Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease","volume":"48","author":"Zhou","year":"2016","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2020.08.017_bib95","doi-asserted-by":"crossref","first-page":"1914","DOI":"10.1016\/j.jaci.2016.09.038","article-title":"Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome","volume":"139","author":"Takagi","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib96","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.4049\/jimmunol.174.3.1507","article-title":"A20 is a negative regulator of IFN regulatory factor 3 signaling","volume":"174","author":"Saitoh","year":"2005","journal-title":"J Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib97","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1159\/000289199","article-title":"Type I interferon: a new player in TNF signaling","volume":"11","author":"Yarilina","year":"2010","journal-title":"Curr Dir Autoimmun"},{"key":"10.1016\/j.jaci.2020.08.017_bib98","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1136\/annrheumdis-2019-215918","article-title":"Type I interferon signature predicts response to JAK inhibition in haploinsufficiency of A20","volume":"79","author":"Schwartz","year":"2020","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jaci.2020.08.017_bib99","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1186\/1546-0096-12-33","article-title":"Blau syndrome, the prototypic auto-inflammatory granulomatous disease","volume":"12","author":"Wouters","year":"2014","journal-title":"Pediatr Rheumatol Online J"},{"key":"10.1016\/j.jaci.2020.08.017_bib100","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1093\/rheumatology\/keu437","article-title":"Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes","volume":"54","author":"Rose","year":"2015","journal-title":"Rheumatology (Oxford)"},{"key":"10.1016\/j.jaci.2020.08.017_bib101","doi-asserted-by":"crossref","first-page":"536","DOI":"10.3899\/jrheum.160672","article-title":"Tumor necrosis factor inhibitors provide long-term clinical benefits in pediatric and young adult patients with Blau syndrome","volume":"44","author":"Nagakura","year":"2017","journal-title":"J Rheumatol"},{"key":"10.1016\/j.jaci.2020.08.017_bib102","doi-asserted-by":"crossref","first-page":"9801","DOI":"10.1073\/pnas.0914118107","article-title":"Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome","volume":"107","author":"Simon","year":"2010","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jaci.2020.08.017_bib103","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1084\/jem.20102049","article-title":"Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS)","volume":"208","author":"Bulua","year":"2011","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2020.08.017_bib104","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1056\/NEJMoa1307361","article-title":"Early-onset stroke and vasculopathy associated with mutations in ADA2","volume":"370","author":"Zhou","year":"2014","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2020.08.017_bib105","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1056\/NEJMoa1307362","article-title":"Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy","volume":"370","author":"Navon Elkan","year":"2014","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2020.08.017_bib106","doi-asserted-by":"crossref","first-page":"1582","DOI":"10.1056\/NEJMc1801927","article-title":"Treatment strategies for deficiency of adenosine deaminase 2","volume":"380","author":"Ombrello","year":"2019","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2020.08.017_bib107","doi-asserted-by":"crossref","first-page":"1664","DOI":"10.1016\/j.jaci.2019.12.908","article-title":"Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2)","volume":"145","author":"Lee","year":"2020","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib108","doi-asserted-by":"crossref","first-page":"282","DOI":"10.3389\/fped.2018.00282","article-title":"Vasculopathy, immunodeficiency, and bone marrow failure: the intriguing syndrome caused by deficiency of adenosine deaminase 2","volume":"6","author":"Lee","year":"2018","journal-title":"Front Pediatr"},{"key":"10.1016\/j.jaci.2020.08.017_bib109","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1038\/ng.3279","article-title":"COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis","volume":"47","author":"Watkin","year":"2015","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2020.08.017_bib110","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.clim.2017.10.001","article-title":"Type I interferon pathway activation in COPA syndrome","volume":"187","author":"Volpi","year":"2018","journal-title":"Clin Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib111","doi-asserted-by":"crossref","DOI":"10.1084\/jem.20201045","article-title":"A defect in COPI-mediated transport of STING causes immune dysregulation in COPA syndrome","volume":"217","author":"Deng","year":"2020","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2020.08.017_bib112","doi-asserted-by":"crossref","DOI":"10.1084\/jem.20200600","article-title":"Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling","volume":"217","author":"Lepelley","year":"2020","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2020.08.017_bib113","doi-asserted-by":"crossref","first-page":"2360","DOI":"10.4049\/jimmunol.2000028","article-title":"A defect in thymic tolerance causes T cell-mediated autoimmunity in a murine model of COPA syndrome","volume":"204","author":"Deng","year":"2020","journal-title":"J Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib114","doi-asserted-by":"crossref","DOI":"10.1183\/23120541.00017-2018","article-title":"Analysis of pulmonary features and treatment approaches in the COPA syndrome","volume":"4","author":"Tsui","year":"2018","journal-title":"ERJ Open Res"},{"key":"10.1016\/j.jaci.2020.08.017_bib115","first-page":"1","article-title":"Baricitinib in therapy of COPA syndrome in a 15-year-old girl","volume":"7","author":"Krutzke","year":"2019","journal-title":"Eur J Rheumatol"},{"key":"10.1016\/j.jaci.2020.08.017_bib116","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/S1074-7613(00)00005-4","article-title":"Phospholipase Cgamma2 is essential in the functions of B cell and several Fc receptors","volume":"13","author":"Wang","year":"2000","journal-title":"Immunity"},{"key":"10.1016\/j.jaci.2020.08.017_bib117","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"},{"key":"10.1016\/j.jaci.2020.08.017_bib118","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"},{"key":"10.1016\/j.jaci.2020.08.017_bib119","doi-asserted-by":"crossref","first-page":"2863","DOI":"10.3389\/fimmu.2018.02863","article-title":"Novel PLCG2 mutation in a patient with APLAID and Cutis Laxa","volume":"9","author":"Neves","year":"2018","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib120","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1007\/s10875-015-0177-x","article-title":"PLAID: a syndrome of complex patterns of disease and unique phenotypes","volume":"35","author":"Milner","year":"2015","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib121","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1038\/s41577-019-0168-x","article-title":"New insights into the immune functions of complement","volume":"19","author":"Reis","year":"2019","journal-title":"Nat Rev Immunol"},{"key":"10.1016\/j.jaci.2020.08.017_bib122","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1038\/nature04516","article-title":"Gout-associated uric acid crystals activate the NALP3 inflammasome","volume":"440","author":"Martinon","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2020.08.017_bib123","doi-asserted-by":"crossref","first-page":"1357","DOI":"10.1038\/nature08938","article-title":"NLRP3 inflammasomes are required for atherogenesis and activated by cholesterol crystals","volume":"464","author":"Duewell","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2020.08.017_bib124","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1056\/NEJMoa1707914","article-title":"Antiinflammatory therapy with canakinumab for atherosclerotic disease","volume":"377","author":"Ridker","year":"2017","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2020.08.017_bib125","doi-asserted-by":"crossref","first-page":"2497","DOI":"10.1056\/NEJMoa1912388","article-title":"Efficacy and safety of low-dose colchicine after myocardial infarction","volume":"381","author":"Tardif","year":"2019","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2020.08.017_bib126","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/nrrheum.2016.192","article-title":"Causes and consequences of endoplasmic reticulum stress in rheumatic disease","volume":"13","author":"Navid","year":"2017","journal-title":"Nat Rev Rheumatol"},{"key":"10.1016\/j.jaci.2020.08.017_bib127","series-title":"Primary immunodeficiency diseases. Oxford: Oxford University Press","article-title":"Recurrent fever syndromes","author":"Broderick","year":"2014"},{"key":"10.1016\/j.jaci.2020.08.017_bib128","doi-asserted-by":"crossref","first-page":"14405","DOI":"10.1073\/pnas.2002051117","article-title":"Common genetic susceptibility loci link PFAPA syndrome, Behcet\u2019s disease, and recurrent aphthous stomatitis","volume":"117","author":"Manthiram","year":"2020","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jaci.2020.08.017_bib129","doi-asserted-by":"crossref","first-page":"15970","DOI":"10.1073\/pnas.1520779112","article-title":"HLA-DRB1\u221711 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis","volume":"112","author":"Ombrello","year":"2015","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jaci.2020.08.017_bib130","doi-asserted-by":"crossref","first-page":"15785","DOI":"10.1073\/pnas.1521837113","article-title":"Autoinflammation and autoimmunity in systemic juvenile idiopathic arthritis","volume":"112","author":"Nigrovic","year":"2015","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jaci.2020.08.017_bib131","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.132508","article-title":"Th17 reprogramming of T cells in systemic juvenile idiopathic arthritis","volume":"5","author":"Henderson","year":"2020","journal-title":"JCI Insight"},{"key":"10.1016\/j.jaci.2020.08.017_bib132","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1111\/imr.12193","article-title":"Cellular and molecular mechanisms underlying NOD2 risk-associated polymorphisms in Crohn\u2019s disease","volume":"260","author":"Strober","year":"2014","journal-title":"Immunol Rev"},{"key":"10.1016\/j.jaci.2020.08.017_bib133","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1136\/ard.2004.029447","article-title":"Severe disease in patients with rheumatoid arthritis carrying a mutation in the Mediterranean fever gene","volume":"64","author":"Rabinovich","year":"2005","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jaci.2020.08.017_bib134","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 (Baltimore)"},{"key":"10.1016\/j.jaci.2020.08.017_bib135","doi-asserted-by":"crossref","first-page":"3059","DOI":"10.1002\/art.27598","article-title":"Increased\u00a0prevalence of M694V in patients with ankylosing spondylitis: additional evidence for a link with familial Mediterranean fever","volume":"62","author":"Akkoc","year":"2010","journal-title":"Arthritis Rheum"},{"key":"10.1016\/j.jaci.2020.08.017_bib136","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1136\/annrheumdis-2019-215048","article-title":"Classification criteria for autoinflammatory recurrent fevers","volume":"78","author":"Gattorno","year":"2019","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jaci.2020.08.017_bib137","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1002\/art.39961","article-title":"Editorial: It just takes one: somatic mosaicism in autoinflammatory disease","volume":"69","author":"Hoffman","year":"2017","journal-title":"Arthritis Rheumatol"},{"key":"10.1016\/j.jaci.2020.08.017_bib138","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1093\/clinchem\/hvaa024","article-title":"ISSAID\/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era","volume":"66","author":"Shinar","year":"2020","journal-title":"Clin Chem"},{"key":"10.1016\/j.jaci.2020.08.017_bib139","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1136\/jmedgenet-2017-105216","article-title":"New workflow for classification of genetic variants\u2019 pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)","volume":"55","author":"Van Gijn","year":"2018","journal-title":"J Med Genet"},{"key":"10.1016\/j.jaci.2020.08.017_bib140","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1136\/annrheumdis-2015-209020","article-title":"Elevated circulating levels of interferon-gamma and interferon-gamma-induced chemokines characterise patients with macrophage activation syndrome complicating systemic juvenile idiopathic arthritis","volume":"76","author":"Bracaglia","year":"2017","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jaci.2020.08.017_bib141","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1136\/annrheumdis-2019-216030","article-title":"Adenosine deaminase 2 as a biomarker of macrophage activation syndrome in systemic juvenile idiopathic arthritis","volume":"79","author":"Lee","year":"2020","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jaci.2020.08.017_bib142","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1136\/annrheumdis-2011-201268","article-title":"Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review","volume":"72","author":"Ter Haar","year":"2013","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jaci.2020.08.017_bib143","doi-asserted-by":"crossref","first-page":"E4857","DOI":"10.1073\/pnas.1601700113","article-title":"Site-specific phosphorylation and microtubule dynamics control pyrin inflammasome activation","volume":"113","author":"Gao","year":"2016","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jaci.2020.08.017_bib144","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1093\/rheumatology\/kez270","article-title":"Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers","volume":"59","author":"Papa","year":"2020","journal-title":"Rheumatology (Oxford)"},{"key":"10.1016\/j.jaci.2020.08.017_bib145","doi-asserted-by":"crossref","first-page":"1405","DOI":"10.1136\/annrheumdis-2018-214472","article-title":"Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases","volume":"78","author":"Ter Haar","year":"2019","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jaci.2020.08.017_bib146","doi-asserted-by":"crossref","first-page":"1836","DOI":"10.1001\/jama.1994.03510470040032","article-title":"Recombinant human interleukin 1 receptor antagonist in the treatment of patients with sepsis syndrome: results from a randomized, double-blind, placebo-controlled trial. Phase III rhIL-1ra Sepsis Syndrome Study Group","volume":"271","author":"Fisher","year":"1994","journal-title":"JAMA"}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674920312045?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674920312045?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T09:27:49Z","timestamp":1758792469000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674920312045"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11]]},"references-count":146,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["S0091674920312045"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2020.08.017","relation":{},"ISSN":["0091-6749"],"issn-type":[{"value":"0091-6749","type":"print"}],"subject":[],"published":{"date-parts":[[2020,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach","name":"articletitle","label":"Article Title"},{"value":"Journal of Allergy and Clinical Immunology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jaci.2020.08.017","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 American Academy of Allergy, Asthma & Immunology","name":"copyright","label":"Copyright"}]}}