{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T18:49:53Z","timestamp":1780598993533,"version":"3.54.1"},"reference-count":146,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,6,12]],"date-time":"2023-06-12T00:00:00Z","timestamp":1686528000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Scand J Immunol"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In the last 20\u2009years, discoveries about the autoimmune regulator (AIRE) protein and its critical role in immune tolerance have provided fundamental insights into understanding the molecular basis of autoimmunity. This review provides a comprehensive overview of the effect of AIRE on immunological tolerance and the characteristics of autoimmune diseases in<jats:italic>Autoimmune Polyendocrinopathy\u2010Candidiasis\u2010Ectodermal Dystrophy<\/jats:italic>(APECED), which is caused by biallelic AIRE mutations. A better understanding of the immunological mechanisms of AIRE deficiency may enlighten immune tolerance mechanisms and new diagnostic and treatment strategies for autoimmune diseases. Considering that not all clinical features of APECED are present in a given follow\u2010up period, the diagnosis is not easy in a patient at the first visit. Longer follow\u2010up and a multidisciplinary approach are essential for diagnosis. It is challenging to prevent endocrine and other organ damage compared with other diseases associated with multiple autoimmunities, such as FOXP3, LRBA, and CTLA4 deficiencies. Unfortunately, no curative therapy like haematopoietic stem cell transplantation or specific immunomodulation is present that is successful in the treatment.<\/jats:p>","DOI":"10.1111\/sji.13299","type":"journal-article","created":{"date-parts":[[2023,5,12]],"date-time":"2023-05-12T14:49:51Z","timestamp":1683902991000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["APECED and the place of AIRE in the puzzle of the immune network associated with autoimmunity"],"prefix":"10.1111","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2329-7543","authenticated-orcid":false,"given":"Elif Soyak","family":"Aytekin","sequence":"first","affiliation":[{"name":"Pediatric Allergy and Immunology, Department of Pediatrics SBU Dr. Sami Ulus Children Hospital Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2213-4627","authenticated-orcid":false,"given":"Deniz","family":"Cagdas","sequence":"additional","affiliation":[{"name":"Division of Pediatric Immunology, Department of Pediatrics, Ihsan Dogramaci Children`s Hospital, Institute of Child Health Hacettepe University Medical School Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,6,12]]},"reference":[{"issue":"6","key":"e_1_2_16_2_1","doi-asserted-by":"crossref","first-page":"2228","DOI":"10.1172\/JCI78088","article-title":"Mechanisms of human autoimmunity","volume":"125","author":"Rosenblum MD","year":"2015","journal-title":"J Clin Invest"},{"issue":"4","key":"e_1_2_16_3_1","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1111\/joim.12395","article-title":"Human autoimmune diseases: a comprehensive update","volume":"278","author":"Wang 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U","year":"2015","journal-title":"Eur J Immunol"},{"issue":"11","key":"e_1_2_16_25_1","doi-asserted-by":"crossref","first-page":"2964","DOI":"10.1172\/JCI28326","article-title":"NF\u2010\u03baB2 is required for the establishment of central tolerance through an Aire\u2010dependent pathway","volume":"116","author":"Zhu M","year":"2006","journal-title":"J Clin Invest"},{"issue":"2","key":"e_1_2_16_26_1","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1084\/jem.187.2.147","article-title":"Mice deficient in nuclear factor (NF)\u2010\u03baB\/p52 present with defects in humoral responses, germinal center reactions, and splenic microarchitecture","volume":"187","author":"Franzoso G","year":"1998","journal-title":"J Exp Med"},{"issue":"3","key":"e_1_2_16_27_1","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1182\/blood-2005-06-2452","article-title":"Coordination between NF\u2010\u03baB family members p50 and p52 is essential for mediating LT\u03b2R signals in the 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expressed and presented by Aire+ medullary thymic epithelial cells","volume":"8","author":"Aschenbrenner K","year":"2007","journal-title":"Nat Immunol"},{"issue":"2","key":"e_1_2_16_37_1","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.4049\/jimmunol.178.2.1208","article-title":"A defect of regulatory T cells in patients with autoimmune polyendocrinopathy\u2010candidiasis\u2010ectodermal dystrophy","volume":"178","author":"Kek\u00e4l\u00e4inen E","year":"2007","journal-title":"J Immunol"},{"issue":"4","key":"e_1_2_16_38_1","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/j.jaut.2010.07.008","article-title":"Regulatory T cell defect in APECED patients is associated with loss of naive FOXP3+ precursors and impaired activated population","volume":"35","author":"Laakso SM","year":"2010","journal-title":"J Autoimmun"},{"issue":"5","key":"e_1_2_16_39_1","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1016\/j.immuni.2016.02.009","article-title":"Aire 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E","year":"2008","journal-title":"Autoimmunity"},{"issue":"10","key":"e_1_2_16_46_1","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1007\/s00109-008-0374-7","article-title":"Critical immunological pathways are downregulated in APECED patient dendritic cells","volume":"86","author":"P\u00f6ntynen N","year":"2008","journal-title":"J Mol Med"},{"issue":"3","key":"e_1_2_16_47_1","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1006\/bbrc.1999.0308","article-title":"Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla","volume":"257","author":"Heino M","year":"1999","journal-title":"Biochem Biophys Res Commun"},{"issue":"5890","key":"e_1_2_16_48_1","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1126\/science.1159407","article-title":"Deletional tolerance mediated by extrathymic Aire\u2010expressing cells","volume":"321","author":"Gardner JM","year":"2008","journal-title":"Science"},{"key":"e_1_2_16_49_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2018\/3930750","article-title":"The role of autoimmune regulator (AIRE) in peripheral tolerance","volume":"2018","author":"Zhao B","year":"2018","journal-title":"J Immunol Res"},{"issue":"1","key":"e_1_2_16_50_1","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1080\/08916934.2017.1422124","article-title":"Deficiency of autoimmune regulator impairs the immune tolerance effect of bone marrow\u2010derived dendritic cells in mice","volume":"51","author":"Huo F","year":"2018","journal-title":"Autoimmunity"},{"key":"e_1_2_16_51_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.autrev.2022.103141","article-title":"Extrathymic AIRE\u2010expressing cells: friends or foes in autoimmunity and cancer?","volume":"21","author":"Laar GG","year":"2022","journal-title":"Autoimmun 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gravis","volume":"16","author":"Zhang P","year":"2019","journal-title":"J Neuroinflammation"},{"key":"e_1_2_16_55_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.intimp.2021.107979","article-title":"AIRE\u2010overexpressing BMDCs suppress TFH cells through ICOSL to prevent and attenuate autoimmune diabetes in NOD mice","volume":"99","author":"Zou X","year":"2021","journal-title":"Int Immunopharmacol"},{"issue":"3","key":"e_1_2_16_56_1","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1111\/cei.12024","article-title":"Anti\u2010cytokine autoantibodies suggest pathogenetic links with autoimmune regulator deficiency in humans and mice","volume":"171","author":"K\u00e4rner J","year":"2013","journal-title":"Clin Exp Immunol"},{"issue":"9178","key":"e_1_2_16_57_1","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1016\/S0140-6736(99)01989-3","article-title":"Tryptophan hydroxylase autoantibodies and intestinal disease in autoimmune polyendocrine syndrome type 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in patients with autoimmune polyendocrinopathy\u2010candidiasis\u2010ectodermal dystrophy","volume":"121","author":"Obermayer\u2013Straub P","year":"2001","journal-title":"Gastroenterology"},{"issue":"2","key":"e_1_2_16_61_1","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1210\/jc.2003-030279","article-title":"Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I","volume":"89","author":"S\u00f6derbergh A","year":"2004","journal-title":"J Clin Endocrinol Metabol"},{"issue":"206","key":"e_1_2_16_62_1","article-title":"BPIFB1 is a lung\u2010specific autoantigen associated with interstitial lung disease","volume":"5","author":"Shum AK","year":"2013","journal-title":"Sci Transl Med"},{"issue":"10","key":"e_1_2_16_63_1","doi-asserted-by":"crossref","first-page":"3220","DOI":"10.1681\/ASN.2015101126","article-title":"Autoantibodies targeting a collecting duct\u2010specific water channel in tubulointerstitial 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gastrointestinal endocrine cells in a patient with autoimmune polyglandular syndrome type I and malabsorption","volume":"91","author":"Oliva\u2010Hemker M","year":"2006","journal-title":"J Clin Endocrinol Metabol"},{"issue":"11","key":"e_1_2_16_118_1","doi-asserted-by":"crossref","first-page":"4583","DOI":"10.1073\/pnas.0700259104","article-title":"Loss of Aire\u2010dependent thymic expression of a peripheral tissue antigen renders it a target of autoimmunity","volume":"104","author":"Gavanescu I","year":"2007","journal-title":"Proc Natl Acad Sci"},{"key":"e_1_2_16_119_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2012\/520970","article-title":"Clinical usefulness of the serological gastric biopsy for the diagnosis of chronic autoimmune gastritis","volume":"2012","author":"Antico A","year":"2012","journal-title":"Clin Dev 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autoimmune\u2010polyendocrine\u2010syndrome type 1 (APS\u20101)","volume":"131","author":"Meisel C","year":"2021","journal-title":"J Clin Invest"},{"issue":"11","key":"e_1_2_16_136_1","doi-asserted-by":"crossref","first-page":"3242","DOI":"10.3390\/jcm11113242","article-title":"In search for the missing Link in APECED\u2010like conditions: analysis of the AIRE gene in a series of 48 patients","volume":"11","author":"Fierabracci A","year":"2022","journal-title":"J Clin Med"},{"key":"e_1_2_16_137_1","first-page":"1","article-title":"A review of autoimmune enteropathy and its associated syndromes","volume":"65","author":"Chen CB","year":"2020","journal-title":"Dig Dis Sci"},{"issue":"11","key":"e_1_2_16_138_1","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1016\/j.cgh.2007.05.013","article-title":"Adult autoimmune enteropathy: Mayo clinic Rochester experience","volume":"5","author":"Akram S","year":"2007","journal-title":"Clin Gastroenterol 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