{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T15:34:02Z","timestamp":1759332842466,"version":"build-2065373602"},"reference-count":36,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2019,11,1]],"date-time":"2019-11-01T00:00:00Z","timestamp":1572566400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,11,1]],"date-time":"2019-11-01T00:00:00Z","timestamp":1572566400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"Vice Chancellor for Research at Mashhad University of Medical Sciences","award":["87883"],"award-info":[{"award-number":["87883"]}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Immunobiology"],"published-print":{"date-parts":[[2019,11]]},"DOI":"10.1016\/j.imbio.2019.09.004","type":"journal-article","created":{"date-parts":[[2019,9,6]],"date-time":"2019-09-06T11:22:06Z","timestamp":1567768926000},"page":"728-733","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["Novel mutation in AIRE gene with autoimmune polyendocrine syndrome type 1"],"prefix":"10.1016","volume":"224","author":[{"given":"Fatemeh","family":"Fardi Golyan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nosrat","family":"Ghaemi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad Reza","family":"Abbaszadegan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seyed Hossein","family":"Dehghan Manshadi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rahim","family":"Vakili","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Todd E.","family":"Druley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamid Reza","family":"Rahimi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martha","family":"Ghahraman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.imbio.2019.09.004_bib0005","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1038\/ng1297-399","article-title":"An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains","volume":"17","author":"Aaltonen","year":"1997","journal-title":"Nat. Genet."},{"issue":"26","key":"10.1016\/j.imbio.2019.09.004_bib0010","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":"2","key":"10.1016\/j.imbio.2019.09.004_bib0015","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/j.coi.2010.11.007","article-title":"Aire and T cell development","volume":"23","author":"Anderson","year":"2011","journal-title":"Curr. Opin. Immunol."},{"issue":"2","key":"10.1016\/j.imbio.2019.09.004_bib0020","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.immuni.2005.07.005","article-title":"The cellular mechanism of Aire control of T cell tolerance","volume":"23","author":"Anderson","year":"2005","journal-title":"Immunity"},{"issue":"2","key":"10.1016\/j.imbio.2019.09.004_bib0025","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1086\/302765","article-title":"Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis\u2013ectodermal dystrophy protein","volume":"66","author":"Bj\u00f6rses","year":"2000","journal-title":"Am. J. Hum. Genet."},{"issue":"12","key":"10.1016\/j.imbio.2019.09.004_bib0030","doi-asserted-by":"crossref","first-page":"11505","DOI":"10.1074\/jbc.M413959200","article-title":"NMR Structure of the First PHD Finger of Autoimmune Regulator Protein (AIRE1) insights into autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) disease","volume":"280","author":"Bottomley","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.imbio.2019.09.004_bib0035","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.coi.2016.07.003","article-title":"AIRE-mutations and autoimmune disease","volume":"43","author":"Bruserud","year":"2016","journal-title":"Curr. Opin. Immunol."},{"issue":"3","key":"10.1016\/j.imbio.2019.09.004_bib0040","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1111\/j.1365-2265.2008.03318.x","article-title":"Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune\u2010polyendocrinopathy\u2010candidiasis\u2010ectodermal\u2010dystrophy (APECED) and in their relatives","volume":"70","author":"Cervato","year":"2009","journal-title":"Clin. Endocrinol. (Oxf)"},{"issue":"13","key":"10.1016\/j.imbio.2019.09.004_bib0045","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.88782","article-title":"Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy","volume":"1","author":"Ferre","year":"2016","journal-title":"JCI Insight"},{"issue":"1","key":"10.1016\/j.imbio.2019.09.004_bib0050","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.gene.2012.09.029","article-title":"A novel heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED)","volume":"511","author":"Fierabracci","year":"2012","journal-title":"Gene"},{"issue":"5890","key":"10.1016\/j.imbio.2019.09.004_bib0055","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1126\/science.1159407","article-title":"Deletional tolerance mediated by extrathymic Aire-expressing cells","volume":"321","author":"Gardner","year":"2008","journal-title":"Science"},{"issue":"7","key":"10.1016\/j.imbio.2019.09.004_bib0060","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1016\/S0968-0004(98)01231-6","article-title":"The APECED polyglandular autoimmune syndrome protein, AIRE-1, contains the SAND domain and is probably a transcription factor","volume":"23","author":"Gibson","year":"1998","journal-title":"Trends Biochem. Sci."},{"issue":"6","key":"10.1016\/j.imbio.2019.09.004_bib0065","doi-asserted-by":"crossref","first-page":"2568","DOI":"10.1210\/jcem.87.6.8564","article-title":"AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype","volume":"87","author":"Halonen","year":"2002","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"44","key":"10.1016\/j.imbio.2019.09.004_bib0070","doi-asserted-by":"crossref","first-page":"41357","DOI":"10.1074\/jbc.M104898200","article-title":"The autoimmune regulator (AIRE) is a DNA-binding protein","volume":"276","author":"Kumar","year":"2001","journal-title":"J. Biol. Chem."},{"issue":"13","key":"10.1016\/j.imbio.2019.09.004_bib0075","doi-asserted-by":"crossref","first-page":"11779","DOI":"10.1074\/jbc.M110.208207","article-title":"Plant homeodomain (PHD) fingers of CHD4 are histone H3-binding modules with preference for unmodified H3K4 and methylated H3K9","volume":"286","author":"Mansfield","year":"2011","journal-title":"J. Biol. Chem."},{"issue":"1","key":"10.1016\/j.imbio.2019.09.004_bib0080","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.clim.2010.12.021","article-title":"Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome","volume":"139","author":"Mazza","year":"2011","journal-title":"Clin. Immunol."},{"issue":"4","key":"10.1016\/j.imbio.2019.09.004_bib0085","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.1210\/jc.2011-2461","article-title":"Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients","volume":"97","author":"Meloni","year":"2012","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"3","key":"10.1016\/j.imbio.2019.09.004_bib0090","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1002\/humu.9309","article-title":"Two novel mutations of the AIRE protein affecting its homodimerization properties","volume":"25","author":"Meloni","year":"2005","journal-title":"Hum. Mutat."},{"issue":"3","key":"10.1016\/j.imbio.2019.09.004_bib0095","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller","year":"1988","journal-title":"Nucleic Acids Res."},{"issue":"2","key":"10.1016\/j.imbio.2019.09.004_bib0100","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1006\/bbrc.1999.0223","article-title":"Isolation and Characterization of the MouseAireGene","volume":"255","author":"Mittaz","year":"1999","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"7","key":"10.1016\/j.imbio.2019.09.004_bib0105","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0101616","article-title":"New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1","volume":"9","author":"Mora","year":"2014","journal-title":"PLoS One"},{"issue":"4","key":"10.1016\/j.imbio.2019.09.004_bib0110","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1038\/ng1297-393","article-title":"Positional cloning of the APECED gene","volume":"17","author":"Nagamine","year":"1997","journal-title":"Nat. Genet."},{"issue":"6","key":"10.1016\/j.imbio.2019.09.004_bib0115","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1016\/j.immuni.2015.04.021","article-title":"Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases","volume":"42","author":"Oftedal","year":"2015","journal-title":"Immunity"},{"issue":"6","key":"10.1016\/j.imbio.2019.09.004_bib0120","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1159\/000313585","article-title":"Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations","volume":"73","author":"Orlova","year":"2010","journal-title":"Horm. Res. Paediatr."},{"issue":"6","key":"10.1016\/j.imbio.2019.09.004_bib0125","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.1086\/302145","article-title":"A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1","volume":"63","author":"Pearce","year":"1998","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.imbio.2019.09.004_bib0130","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1111\/j.1365-2249.2004.02384.x","article-title":"Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity","volume":"135","author":"Peterson","year":"2004","journal-title":"Clin. Exp. Immunol."},{"issue":"22","key":"10.1016\/j.imbio.2019.09.004_bib0135","doi-asserted-by":"crossref","first-page":"16802","DOI":"10.1074\/jbc.M908944199","article-title":"The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein","volume":"275","author":"Pitk\u00e4nen","year":"2000","journal-title":"J. Biol. Chem."},{"issue":"26","key":"10.1016\/j.imbio.2019.09.004_bib0140","doi-asserted-by":"crossref","first-page":"3299","DOI":"10.1093\/hmg\/11.26.3299","article-title":"Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targeting","volume":"11","author":"Ramsey","year":"2002","journal-title":"Hum. Mol. Genet."},{"issue":"4","key":"10.1016\/j.imbio.2019.09.004_bib0145","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1007\/s004390050846","article-title":"A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients","volume":"103","author":"Rosatelli","year":"1998","journal-title":"Hum. Genet."},{"issue":"4","key":"10.1016\/j.imbio.2019.09.004_bib0150","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1530\/eje.0.1440347","article-title":"Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy","volume":"144","author":"Saugier-Veber","year":"2001","journal-title":"Eur. J. Endocrinol."},{"issue":"8","key":"10.1016\/j.imbio.2019.09.004_bib0155","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.1210\/mend.12.8.0143","article-title":"Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins","volume":"12","author":"Scott","year":"1998","journal-title":"Mol. Endocrinol."},{"issue":"6","key":"10.1016\/j.imbio.2019.09.004_bib0160","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1007\/s004390050891","article-title":"Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1)","volume":"103","author":"Wang","year":"1998","journal-title":"Hum. Genet."},{"issue":"2","key":"10.1016\/j.imbio.2019.09.004_bib0165","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1210\/jc.2006-1873","article-title":"Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene","volume":"92","author":"Wolff","year":"2006","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"1","key":"10.1016\/j.imbio.2019.09.004_bib0170","article-title":"A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1","volume":"8","author":"Zhang","year":"2013","journal-title":"PLoS One"},{"issue":"10","key":"10.1016\/j.imbio.2019.09.004_bib0175","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1007\/s00251-017-0995-5","article-title":"A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1","volume":"69","author":"Zhu W, Hu Z, Liao","year":"2017","journal-title":"Immunogenetics"},{"issue":"11","key":"10.1016\/j.imbio.2019.09.004_bib0180","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1136\/jmg.29.11.824","article-title":"Polyglandular autoimmune syndrome type I among Iranian Jews","volume":"29","author":"Zlotogora","year":"1992","journal-title":"J. Med. Genet."}],"container-title":["Immunobiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0171298519301640?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0171298519301640?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T16:45:41Z","timestamp":1759250741000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0171298519301640"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11]]},"references-count":36,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2019,11]]}},"alternative-id":["S0171298519301640"],"URL":"https:\/\/doi.org\/10.1016\/j.imbio.2019.09.004","relation":{},"ISSN":["0171-2985"],"issn-type":[{"type":"print","value":"0171-2985"}],"subject":[],"published":{"date-parts":[[2019,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel mutation in AIRE gene with autoimmune polyendocrine syndrome type 1","name":"articletitle","label":"Article Title"},{"value":"Immunobiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.imbio.2019.09.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Published by Elsevier GmbH.","name":"copyright","label":"Copyright"}]}}