{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T01:03:13Z","timestamp":1785805393643,"version":"3.56.0"},"reference-count":46,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2018,8,13]],"date-time":"2018-08-13T00:00:00Z","timestamp":1534118400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"DOI":"10.3389\/fimmu.2018.01835","type":"journal-article","created":{"date-parts":[[2018,8,13]],"date-time":"2018-08-13T09:31:38Z","timestamp":1534152698000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":10,"title":["A Novel Homozygous Mutation of the AIRE Gene in an APECED Patient From Pakistan: Case Report and Review of the Literature"],"prefix":"10.3389","volume":"9","author":[{"given":"Marsha","family":"Pellegrino","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuele","family":"Bellacchio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rudina","family":"Dhamo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Frasca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corrado","family":"Betterle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Fierabracci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2018,8,13]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1530\/eje.0.1500313","article-title":"Autoantibodies to human tryptophan hydroxylase and aromatic L-amino acid decarboxylase","volume":"150","author":"Dal Pra","year":"2004","journal-title":"Eur J Endocrinol"},{"key":"B2","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1016\/j.clim.2015.03.012","article-title":"Gastrointestinal immunity against tryptophan hydroxylase-1, aromatic L-amino-acid decarboxylase, AIE-75, villin and Paneth cells in APECED","volume":"158","author":"Kluger","year":"2015","journal-title":"Clin Immunol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"1003","DOI":"10.1515\/cclm-2016-0615","article-title":"Assessment of autoantibodies to interferon-\u03c9 in patients with autoimmune polyendocrine syndrome type 1: using a new immunoprecipitation assay","volume":"55","author":"Larosa","year":"2017","journal-title":"Clin Chem Lab Med"},{"key":"B4","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1084\/jem.20091983","article-title":"Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I","volume":"207","author":"Puel","year":"2010","journal-title":"J Exp Med"},{"key":"B5","doi-asserted-by":"publisher","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"},{"key":"B6","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1111\/j.1742-4658.2005.05065.x","article-title":"The monopartite nuclear localization signal of autoimmune regulator mediates its nuclear import and interaction with multiple importin alpha molecules","volume":"273","author":"Ilmarinen","year":"2006","journal-title":"FEBS J"},{"key":"B7","doi-asserted-by":"publisher","first-page":"E1106","DOI":"10.3390\/ijms17071106","article-title":"Type 1 diabetes in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED): a \u201crare\u201d manifestation in a \u201crare\u201d disease","volume":"17","author":"Fierabracci","year":"2016","journal-title":"Int J Mol Sci"},{"key":"B8","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1016\/j.autrev.2010.08.019","article-title":"Recent insights into the role and molecular mechanisms of the autoimmune regulator (AIRE) gene in autoimmunity","volume":"10","author":"Fierabracci","year":"2011","journal-title":"Autoimmun Rev"},{"key":"B9","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1093\/hmg\/8.2.259","article-title":"Localization of the APECED protein in distinct nuclear structures","volume":"8","author":"Bj\u00f6rses","year":"1999","journal-title":"Hum Mol Genet"},{"key":"B10","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1080\/08916930701773941","article-title":"Expression of AIRE in thymocytes and peripheral lymphocytes","volume":"41","author":"Suzuki","year":"2008","journal-title":"Autoimmunity"},{"key":"B11","doi-asserted-by":"publisher","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"},{"key":"B12","doi-asserted-by":"publisher","first-page":"1104","DOI":"10.2353\/ajpath.2010.090956","article-title":"Human peripheral lymphoid tissues contain autoimmune regulator-expressing dendritic cells","volume":"176","author":"Poliani","year":"2010","journal-title":"Am J Pathol"},{"key":"B13","doi-asserted-by":"publisher","first-page":"1158","DOI":"10.1016\/j.jaci.2005.08.036","article-title":"CD4+CD25+ T-regulatory cells are decreased in patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy","volume":"116","author":"Ryan","year":"2005","journal-title":"J Allergy Clin Immunol"},{"key":"B14","doi-asserted-by":"publisher","first-page":"1208","DOI":"10.4049\/jimmunol.178.2.1208","article-title":"A defect of regulatory T cells in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy","volume":"178","author":"Kek\u00e4l\u00e4inen","year":"2007","journal-title":"J Immunol"},{"key":"B15","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1126\/science.aaa7017","article-title":"Immune tolerance. Regulatory T cells generated early in life play a distinct role in maintaining self-tolerance","volume":"348","author":"Yang","year":"2015","journal-title":"Science"},{"key":"B16","doi-asserted-by":"publisher","first-page":"1829","DOI":"10.1056\/NEJM199006283222601","article-title":"Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients","volume":"322","author":"Ahonen","year":"1990","journal-title":"N Engl J Med"},{"key":"B17","doi-asserted-by":"publisher","first-page":"514","DOI":"10.1111\/j.1365-2796.2009.02090.x","article-title":"Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I","volume":"265","author":"Husebye","year":"2009","journal-title":"J Intern Med"},{"key":"B18","doi-asserted-by":"publisher","first-page":"1049","DOI":"10.1210\/jcem.83.4.4682","article-title":"Clinical review 93: autoimmune polyglandular syndrome type 1","volume":"83","author":"Betterle","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"B19","doi-asserted-by":"publisher","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"},{"key":"B20","doi-asserted-by":"publisher","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"},{"key":"B21","doi-asserted-by":"publisher","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":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"B22","doi-asserted-by":"publisher","first-page":"1343","DOI":"10.1515\/JPEM.2006.19.11.1343","article-title":"Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population","volume":"19","author":"Dominguez","year":"2006","journal-title":"J Pediatr Endocrinol Metab"},{"key":"B23","doi-asserted-by":"publisher","first-page":"705","DOI":"10.1530\/EJE-07-0843","article-title":"Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison\u2019s disease","volume":"158","author":"Magitta","year":"2008","journal-title":"Eur J Endocrinol"},{"key":"B24","doi-asserted-by":"publisher","first-page":"3546","DOI":"10.1210\/jc.2017-00139","article-title":"Expanding the phenotypic and genotypic landscape of autoimmune polyendocrine syndrome type 1","volume":"102","author":"Orlova","year":"2017","journal-title":"J Clin Endocrinol Metab"},{"key":"B25","doi-asserted-by":"publisher","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"},{"key":"B26","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1097\/00005792-198109000-00003","article-title":"Two types of autoimmune Addison\u2019s disease associated with different polyglandular autoimmune (PGA) syndromes","volume":"60","author":"Neufeld","year":"1981","journal-title":"Medicine (Baltimore)"},{"key":"B27","doi-asserted-by":"publisher","first-page":"4930","DOI":"10.1210\/jc.2005-0418","article-title":"Autoimmune regulator-1 messenger ribonucleic acid analysis in a novel intronic mutation and two additional novel AIRE gene mutations in a cohort of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients","volume":"90","author":"Podkrajsek","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"key":"B28","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1111\/j.1399-0004.2006.00690.x","article-title":"Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence","volume":"70","author":"Stolarski","year":"2006","journal-title":"Clin Genet"},{"key":"B29","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1159\/000363537","article-title":"Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of seven additional Sicilian patients and overview of the overall series from Sicily","volume":"82","author":"Valenzise","year":"2014","journal-title":"Horm Res Paediatr"},{"key":"B30","doi-asserted-by":"publisher","first-page":"2975","DOI":"10.1210\/jc.2016-1821","article-title":"A longitudinal follow-up of autoimmune polyendocrine syndrome type 1","volume":"101","author":"Bruserud","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"key":"B31","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1007\/s40619-016-0169-y","article-title":"Sindrome poliendocrina autoimmune di Tipo 1 in Italia. L\u2019","volume":"17","author":"Betterle","year":"2016","journal-title":"Endocrinology"},{"key":"B32","doi-asserted-by":"publisher","first-page":"e88782","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"},{"key":"B33","unstructured":"Medscape CME Case Presentation 2011 Medscape"},{"key":"B34","first-page":"187","article-title":"A case of polyglandular autoimmune syndrome type I with unusual presentation","volume":"21","author":"Qureshi","year":"2011","journal-title":"J Coll Physicians Surg Pak"},{"key":"B35","doi-asserted-by":"publisher","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":"B36","doi-asserted-by":"publisher","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"},{"key":"B37","doi-asserted-by":"publisher","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-ectodermal dystrophy protein","volume":"66","author":"Bj\u00f6rses","year":"2000","journal-title":"Am J Hum Genet"},{"key":"B38","doi-asserted-by":"publisher","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"},{"key":"B39","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1111\/j.1600-0854.2005.00270.x","article-title":"Mechanisms of receptor-mediated nuclear import and nuclear export","volume":"6","author":"Pemberton","year":"2005","journal-title":"Traffic"},{"key":"B40","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1186\/s12929-014-0085-z","article-title":"AIRE acetylation and deacetylation: effect on protein stability and transactivation activity","volume":"21","author":"Incani","year":"2014","journal-title":"J Biomed Sci"},{"key":"B41","doi-asserted-by":"publisher","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"},{"key":"B42","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1111\/j.1749-6632.2011.06308.x","article-title":"Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome","volume":"1246","author":"Kisand","year":"2011","journal-title":"Ann N Y Acad Sci"},{"key":"B43","doi-asserted-by":"publisher","first-page":"4747","DOI":"10.1210\/jcem.86.10.7884","article-title":"A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis","volume":"86","author":"Cetani","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"B44","doi-asserted-by":"publisher","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"},{"key":"B45","doi-asserted-by":"publisher","first-page":"844","DOI":"10.1017\/S0021932015000449","article-title":"Consanguinity, genetics and definitions of kinship in the UK Pakistani population","volume":"48","author":"Bittles","year":"2016","journal-title":"J Biosoc Sci"},{"key":"B46","doi-asserted-by":"publisher","first-page":"1792","DOI":"10.1093\/nar\/gkh340","article-title":"MUSCLE: multiple sequence alignment with high accuracy and high throughput","volume":"32","author":"Edgar","year":"2004","journal-title":"Nucleic Acids Res"}],"container-title":["Frontiers in Immunology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fimmu.2018.01835\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,8,13]],"date-time":"2018-08-13T09:31:53Z","timestamp":1534152713000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fimmu.2018.01835\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,8,13]]},"references-count":46,"alternative-id":["10.3389\/fimmu.2018.01835"],"URL":"https:\/\/doi.org\/10.3389\/fimmu.2018.01835","relation":{},"ISSN":["1664-3224"],"issn-type":[{"value":"1664-3224","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,8,13]]},"article-number":"1835"}}