{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T00:21:55Z","timestamp":1762474915167,"version":"build-2065373602"},"reference-count":10,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2018,7,1]],"date-time":"2018-07-01T00:00:00Z","timestamp":1530403200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,7,1]],"date-time":"2018-07-01T00:00:00Z","timestamp":1530403200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,3,6]],"date-time":"2018-03-06T00:00:00Z","timestamp":1520294400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["jaadcasereports.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["JAAD Case Reports"],"published-print":{"date-parts":[[2018,7]]},"DOI":"10.1016\/j.jdcr.2018.03.004","type":"journal-article","created":{"date-parts":[[2018,6,23]],"date-time":"2018-06-23T18:07:33Z","timestamp":1529777253000},"page":"602-605","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["A novel AIRE gene mutation in a patient with autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy revealed by alopecia areata"],"prefix":"10.1016","volume":"4","author":[{"given":"Aycha","family":"Arousse","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lobna","family":"Boussofara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorra","family":"H'mida-Ben Brahim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e9lanie","family":"Migaud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amina","family":"Aounallah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Najet","family":"Ghariani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Laurent","family":"Casanova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafiaa","family":"Nouira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Puel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed","family":"Denguezli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jdcr.2018.03.004_bib1","doi-asserted-by":"crossref","first-page":"1829","DOI":"10.1056\/NEJM199006283222601","article-title":"Clinical variation of autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy (APECED) in a series of 68 patients","volume":"322","author":"Ahonen","year":"1990","journal-title":"N Engl J Med"},{"issue":"6","key":"10.1016\/j.jdcr.2018.03.004_bib2","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1046\/j.1523-1747.1999.00778.x","article-title":"Antibodies against hair follicles are associated with alopecia totalis in autoimmune polyendocrine syndrome type I","volume":"113","author":"Hedstrand","year":"1999","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jdcr.2018.03.004_bib3","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1111\/j.1365-2133.2006.07166.x","article-title":"Dermatological manifestations of APECED","volume":"154","author":"Collins","year":"2006","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jdcr.2018.03.004_bib4","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1007\/s10875-015-0176-y","article-title":"Autoimmune polyendorinopathy candidiasis ectodermal dystrophy","volume":"35","author":"Kisand","year":"2015","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jdcr.2018.03.004_bib5","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/nri1255","article-title":"Immunity to fungal infections","volume":"4","author":"Romani","year":"2004","journal-title":"Nat Rev Immunol"},{"key":"10.1016\/j.jdcr.2018.03.004_bib6","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1084\/jem.20091669","article-title":"Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines","volume":"207","author":"Kisand","year":"2010","journal-title":"J Exp Med"},{"issue":"207","key":"10.1016\/j.jdcr.2018.03.004_bib7","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1084\/jem.20091983","article-title":"Autoantibodies in patients with APS-I","volume":"2","author":"Puel","year":"2010","journal-title":"J Exp Med"},{"issue":"7","key":"10.1016\/j.jdcr.2018.03.004_bib8","doi-asserted-by":"crossref","first-page":"e289","DOI":"10.1371\/journal.pmed.0030289","article-title":"Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1","volume":"3","author":"Meager","year":"2006","journal-title":"PLoS Med"},{"key":"10.1016\/j.jdcr.2018.03.004_bib9","doi-asserted-by":"crossref","first-page":"4389","DOI":"10.1210\/jc.2008-0935","article-title":"Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I","volume":"93","author":"Meloni","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.jdcr.2018.03.004_bib10","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/S0889-8529(01)00013-5","article-title":"APS-I\/APECED: the clinical disease and therapy","volume":"31","author":"Perheentupa","year":"2002","journal-title":"Endocrinol Metab Clin North Am"}],"container-title":["JAAD Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352512618300614?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352512618300614?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T00:18:53Z","timestamp":1762474733000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2352512618300614"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7]]},"references-count":10,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,7]]}},"alternative-id":["S2352512618300614"],"URL":"https:\/\/doi.org\/10.1016\/j.jdcr.2018.03.004","relation":{},"ISSN":["2352-5126"],"issn-type":[{"type":"print","value":"2352-5126"}],"subject":[],"published":{"date-parts":[[2018,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A novel AIRE gene mutation in a patient with autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy revealed by alopecia areata","name":"articletitle","label":"Article Title"},{"value":"JAAD Case Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jdcr.2018.03.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Inc.","name":"copyright","label":"Copyright"}]}}