{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:52:03Z","timestamp":1791298323634,"version":"4.1.0"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2008,10,23]],"date-time":"2008-10-23T00:00:00Z","timestamp":1224720000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2008,10,23]],"date-time":"2008-10-23T00:00:00Z","timestamp":1224720000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Genes Immun"],"published-print":{"date-parts":[[2009,3]]},"DOI":"10.1038\/gene.2008.85","type":"journal-article","created":{"date-parts":[[2008,10,23]],"date-time":"2008-10-23T09:51:01Z","timestamp":1224755461000},"page":"120-124","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":164,"title":["A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes"],"prefix":"10.1038","volume":"10","author":[{"given":"N F","family":"Magitta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A S","family":"B\u00f8e Wolff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Johansson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Skinningsrud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B A","family":"Lie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K-M","family":"Myhr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D E","family":"Undlien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Joner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P R","family":"Nj\u00f8lstad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T K","family":"Kvien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00d8","family":"F\u00f8rre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P M","family":"Knappskog","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E S","family":"Husebye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,10,23]]},"reference":[{"key":"BFgene200885_CR1","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1038\/nrm1019","volume":"4","author":"J Tschopp","year":"2003","unstructured":"Tschopp J, Martinon F, Burns K . NALPs: a novel protein family involved in inflammation. Nat Rev Mol Cell Biol 2003; 4: 95\u2013104.","journal-title":"Nat Rev Mol Cell Biol"},{"key":"BFgene200885_CR2","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1016\/j.it.2005.06.004","volume":"26","author":"F Martinon","year":"2005","unstructured":"Martinon F, Tschopp J . NLRs join TLRs as innate sensors of pathogens. Trends Immunol 2005; 26: 447\u2013454.","journal-title":"Trends Immunol"},{"key":"BFgene200885_CR3","doi-asserted-by":"publisher","first-page":"R118","DOI":"10.1016\/S0960-9822(01)00056-2","volume":"11","author":"F Martinon","year":"2001","unstructured":"Martinon F, Hofmann K, Tschopp J . The pyrin domain: a possible member of the death domain-fold family implicated in apoptosis and inflammation. Curr Biol 2001; 11: R118\u2013R120.","journal-title":"Curr Biol"},{"key":"BFgene200885_CR4","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1146\/annurev.immunol.23.021704.115616","volume":"23","author":"JP Ting","year":"2005","unstructured":"Ting JP, Davis BK . CATERPILLER: a novel gene family important in immunity, cell death, and diseases. Annu Rev Immunol 2005; 23: 387\u2013414.","journal-title":"Annu Rev Immunol"},{"key":"BFgene200885_CR5","doi-asserted-by":"publisher","first-page":"692","DOI":"10.1111\/j.1600-0625.2007.00589.x","volume":"16","author":"F Macaluso","year":"2007","unstructured":"Macaluso F, Nothnagel M, Parwez Q, Petrasch-Parwez E, Bechara FG, Epplen JT et al. Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis. Exp Dermatol 2007; 16: 692\u2013698.","journal-title":"Exp Dermatol"},{"key":"BFgene200885_CR6","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1007\/s00281-007-0079-y","volume":"29","author":"F Martinon","year":"2007","unstructured":"Martinon F, Gaide O, Petrilli V, Mayor A, Tschopp J . NALP inflammasomes: a central role in innate immunity. Semin Immunopathol 2007; 29: 213\u2013229.","journal-title":"Semin Immunopathol"},{"key":"BFgene200885_CR7","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1016\/j.cell.2004.05.004","volume":"117","author":"F Martinon","year":"2004","unstructured":"Martinon F, Tschopp J . Inflammatory caspases: linking an intracellular innate immune system to autoinflammatory diseases. Cell 2004; 117: 561\u2013574.","journal-title":"Cell"},{"key":"BFgene200885_CR8","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1016\/S1097-2765(02)00599-3","volume":"10","author":"F Martinon","year":"2002","unstructured":"Martinon F, Burns K, Tschopp J . The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta. Mol Cell 2002; 10: 417\u2013426.","journal-title":"Mol Cell"},{"key":"BFgene200885_CR9","doi-asserted-by":"publisher","first-page":"1216","DOI":"10.1056\/NEJMoa061592","volume":"356","author":"Y Jin","year":"2007","unstructured":"Jin Y, Mailloux CM, Gowan K, Riccardi SL, LaBerge G, Bennett DC et al. NALP1 in vitiligo-associated multiple autoimmune disease. N Engl J Med 2007; 356: 1216\u20131225.","journal-title":"N Engl J Med"},{"key":"BFgene200885_CR10","doi-asserted-by":"publisher","first-page":"2558","DOI":"10.1038\/sj.jid.5700953","volume":"127","author":"Y Jin","year":"2007","unstructured":"Jin Y, Birlea SA, Fain PR, Spritz RA . Genetic variations in NALP1 are associated with generalized vitiligo in a Romanian population. J Invest Dermatol 2007; 127: 2558\u20132562.","journal-title":"J Invest Dermatol"},{"key":"BFgene200885_CR11","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1016\/S0168-9525(00)02180-6","volume":"17","author":"DE Undlien","year":"2001","unstructured":"Undlien DE, Lie BA, Thorsby E . HLA complex genes in type 1 diabetes and other autoimmune diseases. Which genes are involved? Trends Genet 2001; 17: 93\u2013100.","journal-title":"Trends Genet"},{"key":"BFgene200885_CR12","doi-asserted-by":"publisher","first-page":"661","DOI":"10.1038\/nature05911","volume":"447","author":"Wellcome Trust Case Control Consortium","year":"2007","unstructured":"Wellcome Trust Case Control Consortium. Genome-wide association study of 14\u2009000 cases of seven common diseases and 3000 shared controls. Nature 2007; 447: 661\u2013678.","journal-title":"Nature"},{"key":"BFgene200885_CR13","doi-asserted-by":"publisher","first-page":"857","DOI":"10.1038\/ng2068","volume":"39","author":"JA Todd","year":"2007","unstructured":"Todd JA, Walker NM, Cooper JD, Smyth DJ, Downes K, Plagnol V et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 2007; 39: 857\u2013864.","journal-title":"Nat Genet"},{"key":"BFgene200885_CR14","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1038\/nri1788","volume":"6","author":"JP Ting","year":"2006","unstructured":"Ting JP, Kastner DL, Hoffman HM . CATERPILLERs, pyrin and hereditary immunological disorders. Nat Rev Immunol 2006; 6: 183\u2013195.","journal-title":"Nat Rev Immunol"},{"key":"BFgene200885_CR15","doi-asserted-by":"publisher","first-page":"3310","DOI":"10.1210\/jc.2008-0821","volume":"93","author":"B Skinningsrud","year":"2008","unstructured":"Skinningsrud B, Husebye ES, Pearce SH, McDonald DO, Brandal K, Boe Wolff A et al. Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency. J Clin Endocrinol Metab 2008; 93: 3310\u20133317.","journal-title":"J Clin Endocrinol Metab"},{"key":"BFgene200885_CR16","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1038\/35079107","volume":"411","author":"JP Hugot","year":"2001","unstructured":"Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP, Belaiche J et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001; 411: 599\u2013603.","journal-title":"Nature"},{"key":"BFgene200885_CR17","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1038\/ncprheum0681","volume":"4","author":"LD Church","year":"2008","unstructured":"Church LD, Cook GP, McDermott MF . Primer: inflammasomes and interleukin 1beta in inflammatory disorders. Nat Clin Pract Rheumatol 2008; 4: 34\u201342.","journal-title":"Nat Clin Pract Rheumatol"},{"key":"BFgene200885_CR18","doi-asserted-by":"publisher","first-page":"311","DOI":"10.3109\/08916939109001905","volume":"10","author":"S Helqvist","year":"1991","unstructured":"Helqvist S, Zumsteg UW, Spinas GA, Palmer JP, Mandrup-Poulsen T, Egeberg J et al. Repetitive exposure of pancreatic islets to interleukin-1 beta. An in vitro model of pre-diabetes? Autoimmunity 1991; 10: 311\u2013318.","journal-title":"Autoimmunity"},{"key":"BFgene200885_CR19","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1007\/s00125-008-0932-0","volume":"51","author":"M Bjornvold","year":"2008","unstructured":"Bjornvold M, Undlien DE, Joner G, Dahl-Jorgensen K, Njolstad PR, Akselsen HE et al. Joint effects of HLA, INS, PTPN22 and CTLA4 genes on the risk of type 1 diabetes. Diabetologia 2008; 51: 589\u2013596.","journal-title":"Diabetologia"},{"key":"BFgene200885_CR20","doi-asserted-by":"publisher","first-page":"873","DOI":"10.1016\/S0140-6736(99)07125-1","volume":"355","author":"EURODIAB ACE Study Group","year":"2000","unstructured":"EURODIAB ACE Study Group. Variation and trends in incidence of childhood diabetes in Europe. Lancet 2000; 355: 873\u2013876.","journal-title":"Lancet"},{"key":"BFgene200885_CR21","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1002\/ana.410130302","volume":"13","author":"CM Poser","year":"1983","unstructured":"Poser CM, Paty DW, Scheinberg L, McDonald WI, Davis FA, Ebers GC et al. New diagnostic criteria for multiple sclerosis: guidelines for research protocols. Ann Neurol 1983; 13: 227\u2013231.","journal-title":"Ann Neurol"},{"key":"BFgene200885_CR22","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1002\/art.1780310302","volume":"31","author":"FC Arnett","year":"1988","unstructured":"Arnett FC, Edworthy SM, Bloch DA, McShane DJ, Fries JF, Cooper NS et al. The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 1988; 31: 315\u2013324.","journal-title":"Arthritis Rheum"},{"key":"BFgene200885_CR23","doi-asserted-by":"publisher","first-page":"1271","DOI":"10.1002\/art.1780251101","volume":"25","author":"EM Tan","year":"1982","unstructured":"Tan EM, Cohen AS, Fries JF, Masi AT, McShane DJ, Rothfield NF et al. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982; 25: 1271\u20131277.","journal-title":"Arthritis Rheum"},{"key":"BFgene200885_CR24","first-page":"390","volume":"31","author":"RE Petty","year":"2004","unstructured":"Petty RE, Southwood TR, Manners P, Baum J, Glass DN, Goldenberg J et al. International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001. J Rheumatol 2004; 31: 390\u2013392.","journal-title":"J Rheumatol"},{"key":"BFgene200885_CR25","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1086\/519795","volume":"81","author":"S Purcell","year":"2007","unstructured":"Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559\u2013575.","journal-title":"Am J Hum Genet"},{"key":"BFgene200885_CR26","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1093\/bioinformatics\/bth457","volume":"21","author":"JC Barrett","year":"2005","unstructured":"Barrett JC, Fry B, Maller J, Daly MJ . Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21: 263\u2013265.","journal-title":"Bioinformatics"}],"container-title":["Genes & Immunity"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/gene200885.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/gene200885","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/gene200885.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,22]],"date-time":"2022-03-22T12:07:31Z","timestamp":1647950851000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/gene200885"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,10,23]]},"references-count":26,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2009,3]]}},"alternative-id":["BFgene200885"],"URL":"https:\/\/doi.org\/10.1038\/gene.2008.85","relation":{},"ISSN":["1466-4879","1476-5470"],"issn-type":[{"value":"1466-4879","type":"print"},{"value":"1476-5470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,10,23]]},"assertion":[{"value":"11 July 2008","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 September 2008","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 September 2008","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 October 2008","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}