{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T07:36:17Z","timestamp":1790840177533,"version":"4.1.0"},"reference-count":173,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,11,1]],"date-time":"2021-11-01T00:00:00Z","timestamp":1635724800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type-1 (APS-1), is a rare monogenic autoimmune disease caused by loss-of-function mutations in the autoimmune regulator (<jats:italic>AIRE<\/jats:italic>) gene. AIRE deficiency impairs immune tolerance in the thymus and results in the peripheral escape of self-reactive T lymphocytes and the generation of several cytokine- and tissue antigen-targeted autoantibodies. APECED features a classic triad of characteristic clinical manifestations consisting of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and primary adrenal insufficiency (Addison's disease). In addition, APECED patients develop several non-endocrine autoimmune manifestations with variable frequencies, whose recognition by pediatricians should facilitate an earlier diagnosis and allow for the prompt implementation of targeted screening, preventive, and therapeutic strategies. This review summarizes our current understanding of the genetic, immunological, clinical, diagnostic, and treatment features of APECED.<\/jats:p>","DOI":"10.3389\/fped.2021.723532","type":"journal-article","created":{"date-parts":[[2021,11,1]],"date-time":"2021-11-01T05:08:21Z","timestamp":1635743301000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":89,"title":["Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy"],"prefix":"10.3389","volume":"9","author":[{"given":"Elise M. N.","family":"Ferr\u00e9","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica M.","family":"Schmitt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michail S.","family":"Lionakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,11,1]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","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":"Finnish-German","year":"1997","journal-title":"Nat Genet."},{"key":"B2","doi-asserted-by":"publisher","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."},{"key":"B3","doi-asserted-by":"publisher","first-page":"1395","DOI":"10.1126\/science.1075958","article-title":"Projection of an immunological self shadow within the thymus by the aire protein","volume":"298","author":"Anderson","year":"2002","journal-title":"Science."},{"key":"B4","doi-asserted-by":"publisher","first-page":"1292","DOI":"10.1172\/JCI26971","article-title":"Alteration of intra-pancreatic target-organ specificity by abrogation of Aire in NOD mice","volume":"116","author":"Niki","year":"2006","journal-title":"J Clin Invest."},{"key":"B5","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1084\/jem.20050693","article-title":"Modifier loci condition autoimmunity provoked by Aire deficiency","volume":"202","author":"Jiang","year":"2005","journal-title":"J Exp Med."},{"key":"B6","doi-asserted-by":"publisher","first-page":"eaay5731","DOI":"10.1126\/science.aay5731","article-title":"Aberrant type 1 immunity drives susceptibility to mucosal fungal infections","volume":"371","author":"Break","year":"2021","journal-title":"Science."},{"key":"B7","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":"B8","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":"B9","doi-asserted-by":"publisher","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."},{"key":"B10","doi-asserted-by":"publisher","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."},{"key":"B11","doi-asserted-by":"publisher","first-page":"eaav5597","DOI":"10.1126\/scitranslmed.aav5597","article-title":"Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance","volume":"11","author":"Ferre","year":"2019","journal-title":"Sci Transl Med."},{"key":"B12","doi-asserted-by":"publisher","first-page":"1088","DOI":"10.1002\/hep.31421","article-title":"APECED-associated hepatitis: clinical, biochemical, histological and treatment data from a large, predominantly american cohort","volume":"73","author":"Chascsa","year":"2021","journal-title":"Hepatology."},{"key":"B13","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1111\/imr.12714","article-title":"Lessons from primary immunodeficiencies: autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy","volume":"287","author":"Constantine","year":"2019","journal-title":"Immunol Rev."},{"key":"B14","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/j.coi.2017.10.003","article-title":"Insights into immune tolerance from AIRE deficiency","volume":"49","author":"Proekt","year":"2017","journal-title":"Curr Opin Immunol."},{"key":"B15","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1006\/clim.2002.5208","article-title":"Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations","volume":"103","author":"Kogawa","year":"2002","journal-title":"Clin Immunol."},{"key":"B16","doi-asserted-by":"crossref","DOI":"10.3390\/genes12020169","article-title":"Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in two siblings: same mutations but very different phenotypes","volume-title":"Genes (Basel).","author":"Carpino","year":"2021"},{"key":"B17","doi-asserted-by":"publisher","first-page":"3758","DOI":"10.1172\/JCI84440","article-title":"LYN- and AIRE-mediated tolerance checkpoint defects synergize to trigger organ-specific autoimmunity","volume":"126","author":"Proekt","year":"2016","journal-title":"J Clin Invest."},{"key":"B18","doi-asserted-by":"publisher","first-page":"14709","DOI":"10.1073\/pnas.1009209107","article-title":"T-cell regulation by casitas B-lineage lymphoma (Cblb) is a critical failsafe against autoimmune disease due to autoimmune regulator (Aire) deficiency","volume":"107","author":"Teh","year":"2010","journal-title":"Proc Natl Acad Sci U S A."},{"key":"B19","article-title":"A distal Foxp3 enhancer enables interleukin-2 dependent thymic Treg cell lineage commitment for robust immune tolerance","volume-title":"Immunity.","author":"Dikiy","year":"2021"},{"key":"B20","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1002\/humu.20224","article-title":"Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation","volume":"26","author":"Ilmarinen","year":"2005","journal-title":"Hum Mutat."},{"key":"B21","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":"B22","doi-asserted-by":"publisher","first-page":"114","DOI":"10.1016\/j.jaut.2017.10.010","article-title":"Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE)","volume":"88","author":"Abbott","year":"2018","journal-title":"J Autoimmun."},{"key":"B23","doi-asserted-by":"publisher","first-page":"1712","DOI":"10.1172\/JCI34523","article-title":"Mechanisms of an autoimmunity syndrome in mice caused by a dominant mutation in Aire","volume":"118","author":"Su","year":"2008","journal-title":"J Clin Invest."},{"key":"B24","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":"B25","doi-asserted-by":"publisher","first-page":"e20201076","DOI":"10.1084\/jem.20201076","article-title":"Mechanistic dissection of dominant AIRE mutations in mouse models reveals AIRE autoregulation","volume":"218","author":"Goldfarb","year":"2021","journal-title":"J Exp Med."},{"key":"B26","doi-asserted-by":"publisher","first-page":"959","DOI":"10.1038\/s41467-021-21015-8","article-title":"GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility","volume":"12","author":"Eriksson","year":"2021","journal-title":"Nat Commun."},{"key":"B27","doi-asserted-by":"publisher","first-page":"3761","DOI":"10.1038\/s41467-021-24051-6","article-title":"Genome-wide association study identifies five risk loci for pernicious anemia","volume":"12","author":"Laisk","year":"2021","journal-title":"Nat Commun."},{"key":"B28","doi-asserted-by":"publisher","first-page":"1993","DOI":"10.1084\/jem.20151069","article-title":"Identification of a novel cis-regulatory element essential for immune tolerance","volume":"212","author":"Laflam","year":"2015","journal-title":"J Exp Med."},{"key":"B29","doi-asserted-by":"publisher","first-page":"3246","DOI":"10.1002\/eji.201545928","article-title":"A highly conserved NF-kappaB-responsive enhancer is critical for thymic expression of Aire in mice","volume":"45","author":"Haljasorg","year":"2015","journal-title":"Eur J Immunol."},{"key":"B30","doi-asserted-by":"publisher","first-page":"8820","DOI":"10.1038\/ncomms9820","article-title":"Intronic regulation of Aire expression by Jmjd6 for self-tolerance induction in the thymus","volume":"6","author":"Yanagihara","year":"2015","journal-title":"Nat Commun."},{"key":"B31","doi-asserted-by":"publisher","first-page":"921","DOI":"10.4049\/jimmunol.1402694","article-title":"Homeodomain-interacting protein kinase 2, a novel autoimmune regulator interaction partner, modulates promiscuous gene expression in medullary thymic epithelial cells","volume":"194","author":"Rattay","year":"2015","journal-title":"J Immunol."},{"key":"B32","doi-asserted-by":"publisher","first-page":"737","DOI":"10.1038\/ni.3194","article-title":"The deacetylase Sirt1 is an essential regulator of Aire-mediated induction of central immunological tolerance","volume":"16","author":"Chuprin","year":"2015","journal-title":"Nat Immunol."},{"key":"B33","doi-asserted-by":"publisher","first-page":"17953","DOI":"10.1074\/jbc.M116.724401","article-title":"FBXO3 protein promotes ubiquitylation and transcriptional activity of AIRE (Autoimmune Regulator)","volume":"291","author":"Shao","year":"2016","journal-title":"J Biol Chem."},{"key":"B34","doi-asserted-by":"publisher","first-page":"1313","DOI":"10.1002\/eji.201344079","article-title":"Canonical microRNAs in thymic epithelial cells promote central tolerance","volume":"44","year":"2014","journal-title":"Eur J Immunol."},{"key":"B35","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1038\/nri.2016.9","article-title":"AIRE expands: new roles in immune tolerance and beyond","volume":"16","author":"Anderson","year":"2016","journal-title":"Nat Rev Immunol."},{"key":"B36","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1146\/annurev.immunol.25.022106.141532","article-title":"Aire","volume":"27","author":"Mathis","year":"2009","journal-title":"Annu Rev Immunol."},{"key":"B37","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1038\/nri3667","article-title":"Positive and negative selection of the T cell repertoire: what thymocytes see (and don't see)","volume":"14","author":"Klein","year":"2014","journal-title":"Nat Rev Immunol."},{"key":"B38","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1146\/annurev-immunol-051116-052320","article-title":"Thymic epithelial cells","volume":"35","author":"Abramson","year":"2017","journal-title":"Annu Rev Immunol."},{"key":"B39","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1038\/ni.3675","article-title":"The transcriptional regulator Aire binds to and activates super-enhancers","volume":"18","author":"Bansal","year":"2017","journal-title":"Nat Immunol."},{"key":"B40","doi-asserted-by":"publisher","first-page":"1918","DOI":"10.1101\/gr.171645.113","article-title":"Population and single-cell genomics reveal the Aire dependency, relief from Polycomb silencing, and distribution of self-antigen expression in thymic epithelia","volume":"24","author":"Sansom","year":"2014","journal-title":"Genome Res."},{"key":"B41","doi-asserted-by":"publisher","first-page":"4072","DOI":"10.4049\/jimmunol.181.6.4072","article-title":"Effector mechanisms of the autoimmune syndrome in the murine model of autoimmune polyglandular syndrome type 1","volume":"181","author":"Devoss","year":"2008","journal-title":"J Immunol."},{"key":"B42","doi-asserted-by":"publisher","first-page":"13009","DOI":"10.1073\/pnas.0806874105","article-title":"B cells are required for Aire-deficient mice to develop multi-organ autoinflammation: a therapeutic approach for APECED patients","volume":"105","author":"Gavanescu","year":"2008","journal-title":"Proc Natl Acad Sci U S A."},{"key":"B43","doi-asserted-by":"publisher","first-page":"2902","DOI":"10.3389\/fimmu.2018.02902","article-title":"Maturing human CD127+ CCR7+ PDL1+ dendritic cells express AIRE in the absence of tissue restricted antigens","volume":"9","author":"Fergusson","year":"2018","journal-title":"Front Immunol."},{"key":"B44","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":"B45","doi-asserted-by":"publisher","first-page":"560","DOI":"10.1016\/j.immuni.2013.08.005","article-title":"Extrathymic Aire-expressing cells are a distinct bone marrow-derived population that induce functional inactivation of CD4(+) T cells","volume":"39","author":"Gardner","year":"2013","journal-title":"Immunity."},{"key":"B46","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1016\/j.celrep.2013.08.038","article-title":"Lineage tracing and cell ablation identify a post-Aire-expressing thymic epithelial cell population","volume":"5","year":"2013","journal-title":"Cell Rep."},{"key":"B47","doi-asserted-by":"publisher","first-page":"19","DOI":"10.3389\/fimmu.2012.00019","article-title":"Post-Aire maturation of thymic medullary epithelial cells involves selective expression of keratinocyte-specific autoantigens","volume":"3","author":"Wang","year":"2012","journal-title":"Front Immunol."},{"key":"B48","doi-asserted-by":"publisher","first-page":"1027","DOI":"10.1084\/jem.20181430","article-title":"Aire-expressing ILC3-like cells in the lymph node display potent APC features","volume":"216","author":"Yamano","year":"2019","journal-title":"J Exp Med."},{"key":"B49","doi-asserted-by":"publisher","first-page":"2727","DOI":"10.1084\/jem.20061864","article-title":"Spontaneous autoimmunity prevented by thymic expression of a single self-antigen","volume":"203","author":"Devoss","year":"2006","journal-title":"J Exp Med."},{"key":"B50","doi-asserted-by":"publisher","first-page":"2031","DOI":"10.1172\/JCI38332","article-title":"An aberrant prostate antigen-specific immune response causes prostatitis in mice and is associated with chronic prostatitis in humans","volume":"119","author":"Hou","year":"2009","journal-title":"J Clin Invest."},{"key":"B51","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1016\/j.jaut.2017.03.002","article-title":"T cell receptor assessment in autoimmune disease requires access to the most adjacent immunologically active organ","volume":"81","author":"Oftedal","year":"2017","journal-title":"J Autoimmun."},{"key":"B52","doi-asserted-by":"publisher","first-page":"9ra20","DOI":"10.1126\/scitranslmed.3000284","article-title":"Identification of an autoantigen demonstrates a link between interstitial lung disease and a defect in central tolerance","volume":"1","author":"Shum","year":"2009","journal-title":"Sci Transl Med."},{"key":"B53","doi-asserted-by":"publisher","first-page":"7847","DOI":"10.1073\/pnas.1120607109","article-title":"Detection of an autoreactive T-cell population within the polyclonal repertoire that undergoes distinct autoimmune regulator (Aire)-mediated selection","volume":"109","author":"Taniguchi","year":"2012","journal-title":"Proc Natl Acad Sci U S A."},{"key":"B54","doi-asserted-by":"publisher","first-page":"e20200476","DOI":"10.1084\/jem.20200476","article-title":"Nfkb2 variants reveal a p100-degradation threshold that defines autoimmune susceptibility","volume":"218","author":"Wirasinha","year":"2021","journal-title":"J Exp Med."},{"key":"B55","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1016\/j.cellimm.2015.03.005","article-title":"A normal T cell receptor beta CDR3 length distribution in patients with APECED","volume":"295","author":"Niemi","year":"2015","journal-title":"Cell Immunol."},{"key":"B56","doi-asserted-by":"publisher","first-page":"eaav6778","DOI":"10.1126\/sciimmunol.aav6778","article-title":"AIRE expression controls the peripheral selection of autoreactive B cells","volume":"4","author":"Sng","year":"2019","journal-title":"Sci Immunol."},{"key":"B57","doi-asserted-by":"publisher","first-page":"1102","DOI":"10.1016\/j.immuni.2016.02.009","article-title":"Aire enforces immune tolerance by directing autoreactive T cells into the regulatory T cell lineage","volume":"44","author":"Malchow","year":"2016","journal-title":"Immunity."},{"key":"B58","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":"B59","doi-asserted-by":"publisher","first-page":"999","DOI":"10.1016\/j.immuni.2016.10.023","article-title":"Aire inhibits the generation of a perinatal population of interleukin-17A-producing gammadelta T cells to promote immunologic tolerance","volume":"45","author":"Fujikado","year":"2016","journal-title":"Immunity."},{"key":"B60","doi-asserted-by":"publisher","first-page":"4906","DOI":"10.4049\/jimmunol.1200493","article-title":"Defective autoimmune regulator-dependent central tolerance to myelin protein zero is linked to autoimmune peripheral neuropathy","volume":"188","author":"Su","year":"2012","journal-title":"J Immunol."},{"key":"B61","doi-asserted-by":"publisher","first-page":"874","DOI":"10.4049\/jimmunol.1701318","article-title":"Breakdown of immune tolerance in AIRE-deficient rats induces a severe autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy-like autoimmune disease","volume":"201","author":"Ossart","year":"2018","journal-title":"J Immunol."},{"key":"B62","doi-asserted-by":"publisher","first-page":"dmm046359","DOI":"10.1242\/dmm.046359","article-title":"AIRE deficiency, from preclinical models to human APECED disease","volume":"14","author":"Besnard","year":"2021","journal-title":"Dis Model Mech."},{"key":"B63","doi-asserted-by":"publisher","first-page":"1018","DOI":"10.1056\/NEJMoa0706487","article-title":"Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen","volume":"358","author":"Alimohammadi","year":"2008","journal-title":"N Engl J Med."},{"key":"B64","doi-asserted-by":"publisher","first-page":"949","DOI":"10.1073\/pnas.0610070104","article-title":"Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1","volume":"104","author":"Bensing","year":"2007","journal-title":"Proc Natl Acad Sci U S A."},{"key":"B65","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1210\/edrv.23.3.0466","article-title":"Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction","volume":"23","author":"Betterle","year":"2002","journal-title":"Endocr Rev."},{"key":"B66","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1016\/S0140-6736(97)11050-9","article-title":"Identification of tryptophan hydroxylase as an intestinal autoantigen","volume":"352","author":"Ekwall","year":"1998","journal-title":"Lancet."},{"key":"B67","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1007\/s10875-015-0176-y","article-title":"Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy","volume":"35","author":"Kisand","year":"2015","journal-title":"J Clin Immunol."},{"key":"B68","doi-asserted-by":"publisher","first-page":"20104","DOI":"10.1038\/srep20104","article-title":"Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1","volume":"6","author":"Landegren","year":"2016","journal-title":"Sci Rep."},{"key":"B69","doi-asserted-by":"publisher","first-page":"292ra101","DOI":"10.1126\/scitranslmed.aaa9186","article-title":"Transglutaminase 4 as a prostate autoantigen in male subfertility","volume":"7","year":"2015","journal-title":"Sci Transl Med."},{"key":"B70","doi-asserted-by":"publisher","first-page":"2377","DOI":"10.1172\/JCI116843","article-title":"Two different cytochrome P450 enzymes are the adrenal antigens in autoimmune polyendocrine syndrome type I and Addison's disease","volume":"92","author":"Winqvist","year":"1993","journal-title":"J Clin Invest."},{"key":"B71","doi-asserted-by":"publisher","first-page":"1559","DOI":"10.1016\/0140-6736(92)91829-W","article-title":"21-Hydroxylase, a major autoantigen in idiopathic Addison's disease","volume":"339","author":"Winqvist","year":"1992","journal-title":"Lancet."},{"key":"B72","doi-asserted-by":"publisher","first-page":"772","DOI":"10.1177\/0022034519850564","article-title":"Profiling autoantibodies against salivary proteins in sicca conditions","volume":"98","author":"Burbelo","year":"2019","journal-title":"J Dent Res."},{"key":"B73","doi-asserted-by":"publisher","first-page":"582","DOI":"10.1016\/j.cell.2016.06.024","article-title":"AIRE-deficient patients harbor unique high-affinity disease-ameliorating autoantibodies","volume":"166","author":"Meyer","year":"2016","journal-title":"Cell."},{"key":"B74","doi-asserted-by":"publisher","first-page":"4396","DOI":"10.1073\/pnas.0809986106","article-title":"Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen","volume":"106","author":"Alimohammadi","year":"2009","journal-title":"Proc Natl Acad Sci U S A."},{"key":"B75","doi-asserted-by":"publisher","first-page":"976","DOI":"10.3389\/fimmu.2017.00976","article-title":"Autoantibody repertoire in APECED patients targets two distinct subgroups of proteins","volume":"8","author":"Fishman","year":"2017","journal-title":"Front Immunol."},{"key":"B76","doi-asserted-by":"publisher","first-page":"e55053","DOI":"10.7554\/eLife.55053","article-title":"Identification of novel, clinically correlated autoantigens in the monogenic autoimmune syndrome APS1 by proteome-wide PhIP-Seq","volume":"9","author":"Vazquez","year":"2020","journal-title":"Elife."},{"key":"B77","doi-asserted-by":"crossref","DOI":"10.1101\/2021.02.11.430703","article-title":"REAP: A platform to identify autoantibodies that target the human exoproteome","volume-title":"biorxiv","author":"Wang","year":"2021"},{"key":"B78","doi-asserted-by":"publisher","first-page":"206ra139","DOI":"10.1126\/scitranslmed.3006998","article-title":"BPIFB1 is a lung-specific autoantigen associated with interstitial lung disease","volume":"5","author":"Shum","year":"2013","journal-title":"Sci Transl Med."},{"key":"B79","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1002\/ppul.21520","article-title":"Autoimmune polyendocrine syndrome type 1: Utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab","volume":"47","author":"Popler","year":"2012","journal-title":"Pediatr Pulmonol."},{"key":"B80","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":"B81","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":"B82","doi-asserted-by":"publisher","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":"B83","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":"B84","doi-asserted-by":"publisher","first-page":"e20210554","DOI":"10.1084\/jem.20210554","article-title":"Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1","volume":"218","author":"Bastard","year":"2021","journal-title":"J Exp Med."},{"key":"B85","doi-asserted-by":"publisher","first-page":"e139980","DOI":"10.1172\/JCI139980","article-title":"Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency","volume":"131","author":"Bastard","year":"2021","journal-title":"J Clin Invest."},{"key":"B86","doi-asserted-by":"publisher","first-page":"2057","DOI":"10.1084\/jem.20182295","article-title":"Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines","volume":"216","author":"Hernandez","year":"2019","journal-title":"J Exp Med."},{"key":"B87","doi-asserted-by":"publisher","first-page":"108851","DOI":"10.1016\/j.clim.2021.108851","article-title":"Patients with autoimmune polyendocrine syndrome type 1 have an increased susceptibility to severe herpesvirus infections","volume":"231","author":"Hetemaki","year":"2021","journal-title":"Clin Immunol."},{"key":"B88","article-title":"Interferon-independent activities of mammalian STING mediate antiviral response and tumor immune evasion","volume-title":"Immunity.","author":"Wu","year":"2020"},{"key":"B89","doi-asserted-by":"publisher","first-page":"3382","DOI":"10.1038\/s41467-020-17156-x","article-title":"Interferon-independent STING signaling promotes resistance to HSV-1 in vivo","volume":"11","author":"Yamashiro","year":"2020","journal-title":"Nat Commun."},{"key":"B90","doi-asserted-by":"publisher","first-page":"e2100225118","DOI":"10.1073\/pnas.2100225118","article-title":"TBK1 recruitment to STING activates both IRF3 and NF-kappaB that mediate immune defense against tumors and viral infections","volume":"118","author":"Yum","year":"2021","journal-title":"Proc Natl Acad Sci U S A."},{"key":"B91","doi-asserted-by":"publisher","first-page":"e20202486","DOI":"10.1084\/jem.20202486","article-title":"Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine","volume":"218","author":"Bastard","year":"2021","journal-title":"J Exp Med."},{"key":"B92","doi-asserted-by":"publisher","first-page":"eabd4585","DOI":"10.1126\/science.abd4585","article-title":"Autoantibodies against type I IFNs in patients with life-threatening COVID-19","volume":"370","author":"Bastard","year":"2020","journal-title":"Science."},{"key":"B93","doi-asserted-by":"publisher","first-page":"917","DOI":"10.1111\/imcb.12495","article-title":"Neutralizing type-I interferon autoantibodies are associated with delayed viral clearance and intensive care unit admission in patients with COVID-19","volume":"99","author":"Abers","year":"2021","journal-title":"Immunol Cell Biol."},{"key":"B94","doi-asserted-by":"crossref","DOI":"10.1007\/s00134-021-06392-4","article-title":"Autoantibodies against type I interferons are associated with multi-organ failure in COVID-19 patients","volume-title":"Intensive Care Med","author":"Koning","year":"2021"},{"key":"B95","doi-asserted-by":"crossref","DOI":"10.1007\/s10875-021-01036-0","article-title":"Neutralizing autoantibodies to type I IFNs in >10% of patients with severe COVID-19 pneumonia hospitalized in Madrid, Spain","volume-title":"J Clin Immunol","author":"Troya","year":"2021"},{"key":"B96","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.abh2624","article-title":"Type I interferon autoantibodies are associated with systemic immune alterations in patients with COVID-19","volume-title":"Sci Transl Med","author":"Van Der Wijst","year":"2021"},{"key":"B97","doi-asserted-by":"publisher","first-page":"e147834","DOI":"10.1172\/JCI147834","article-title":"Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19","volume":"131","author":"Povysil","year":"2021","journal-title":"J Clin Invest."},{"key":"B98","doi-asserted-by":"publisher","first-page":"663","DOI":"10.1001\/jama.2020.13719","article-title":"Presence of Genetic Variants Among Young Men With Severe COVID-19","volume":"324","author":"Van Der Made","year":"2020","journal-title":"JAMA."},{"key":"B99","doi-asserted-by":"publisher","first-page":"eabd4570","DOI":"10.1126\/science.abd4570","article-title":"Inborn errors of type I IFN immunity in patients with life-threatening COVID-19","volume":"370","author":"Zhang","year":"2020","journal-title":"Science."},{"key":"B100","doi-asserted-by":"publisher","first-page":"1175","DOI":"10.1007\/s40618-020-01323-4","article-title":"A COVID-19 pneumonia case report of autoimmune polyendocrine syndrome type 1 in Lombardy, Italy: letter to the editor","volume":"43","author":"Beccuti","year":"2020","journal-title":"J Endocrinol Invest."},{"key":"B101","doi-asserted-by":"publisher","first-page":"609253","DOI":"10.3389\/fimmu.2020.609253","article-title":"An AIREless Breath: Pneumonitis Caused by Impaired Central Immune Tolerance","volume":"11","author":"Ferre","year":"2020","journal-title":"Front Immunol."},{"key":"B102","doi-asserted-by":"publisher","first-page":"e150867","DOI":"10.1172\/JCI150867","article-title":"Mild COVID-19 despite autoantibodies to type I IFNs in Autoimmune-Polyendocrine-Syndrome Type 1 (APS-1)","volume":"131","author":"Meisel","year":"2021","journal-title":"J Clin Invest"},{"key":"B103","doi-asserted-by":"crossref","DOI":"10.1016\/j.jaci.2021.08.016","article-title":"Antibody responses to the SARS-CoV-2 vaccine in individuals with various Inborn Errors of Immunity","volume-title":"J Allergy Clin Immunol","author":"Delmonte","year":"2021"},{"key":"B104","doi-asserted-by":"publisher","first-page":"720205","DOI":"10.3389\/fimmu.2021.720205","article-title":"SARS-CoV-2 spike protein-directed monoclonal antibodies may ameliorate COVID-19 complications in APECED patients","volume":"12","author":"Ferre","year":"2021","journal-title":"Front Immunol."},{"key":"B105","doi-asserted-by":"publisher","first-page":"632","DOI":"10.1001\/jama.2021.0202","article-title":"Effect of bamlanivimab as monotherapy or in combination with etesevimab on viral load in patients with mild to moderate COVID-19: a randomized clinical trial","volume":"325","author":"Gottlieb","year":"2021","journal-title":"JAMA."},{"key":"B106","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1016\/j.jaci.2021.03.034","article-title":"Severe COVID-19 in an APS1 patient with interferon autoantibodies treated with plasmapheresis","volume":"148","author":"Lemarquis","year":"2021","journal-title":"J Allergy Clin Immunol"},{"key":"B107","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1056\/NEJMoa2021436","article-title":"Dexamethasone in hospitalized patients with Covid-19","volume":"384","author":"Group","year":"2021","journal-title":"N Engl J Med."},{"key":"B108","doi-asserted-by":"publisher","first-page":"1813","DOI":"10.1056\/NEJMc2022236","article-title":"Remdesivir for the treatment of Covid-19 - final report","volume":"383","author":"Beigel","year":"2020","journal-title":"N Engl J Med."},{"key":"B109","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1056\/NEJMoa2023184","article-title":"Repurposed antiviral drugs for Covid-19 - interim WHO solidarity trial results","volume":"384","author":"Consortium","year":"2021","journal-title":"N Engl J Med."},{"key":"B110","doi-asserted-by":"publisher","first-page":"1695","DOI":"10.1016\/S0140-6736(20)31042-4","article-title":"Triple combination of interferon beta-1b, lopinavir-ritonavir, and ribavirin in the treatment of patients admitted to hospital with COVID-19: an open-label, randomised, phase 2 trial","volume":"395","author":"Hung","year":"2020","journal-title":"Lancet."},{"key":"B111","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1002\/eji.200939883","article-title":"Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model","volume":"41","author":"Ahlgren","year":"2011","journal-title":"Eur J Immunol."},{"key":"B112","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":"B113","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1007\/s10875-014-9987-5","article-title":"Autoantibodies to IL-17A may be correlated with the severity of mucocutaneous candidiasis in APECED patients","volume":"34","author":"Sarkadi","year":"2014","journal-title":"J Clin Immunol."},{"key":"B114","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1016\/S0140-6736(19)33161-7","article-title":"Bimekizumab in patients with active psoriatic arthritis: results from a 48-week, randomised, double-blind, placebo-controlled, dose-ranging phase 2b trial","volume":"395","author":"Ritchlin","year":"2020","journal-title":"Lancet."},{"key":"B115","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1111\/bjd.15015","article-title":"Candida infections in patients with psoriasis and psoriatic arthritis treated with interleukin-17 inhibitors and their practical management","volume":"177","author":"Saunte","year":"2017","journal-title":"Br J Dermatol."},{"key":"B116","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1016\/j.jaci.2012.04.024","article-title":"IL-17A is essential for cell activation and inflammatory gene circuits in subjects with psoriasis","volume":"130","author":"Krueger","year":"2012","journal-title":"J Allergy Clin Immunol."},{"key":"B117","doi-asserted-by":"publisher","first-page":"750","DOI":"10.1016\/j.jaci.2019.04.029","article-title":"IL-17A inhibition by secukinumab induces early clinical, histopathologic, and molecular resolution of psoriasis","volume":"144","author":"Krueger","year":"2019","journal-title":"J Allergy Clin Immunol."},{"key":"B118","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1126\/science.1200439","article-title":"Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity","volume":"332","author":"Puel","year":"2011","journal-title":"Science."},{"key":"B119","doi-asserted-by":"publisher","first-page":"676","DOI":"10.1016\/j.immuni.2013.09.002","article-title":"An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis","volume":"39","author":"Boisson","year":"2013","journal-title":"Immunity."},{"key":"B120","doi-asserted-by":"publisher","first-page":"E8277","DOI":"10.1073\/pnas.1618300114","article-title":"Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency","volume":"113","author":"Levy","year":"2016","journal-title":"Proc Natl Acad Sci U S A."},{"key":"B121","doi-asserted-by":"publisher","first-page":"10118","DOI":"10.1073\/pnas.1811866115","article-title":"Interleukin-22 promotes phagolysosomal fusion to induce protection against Salmonella enterica Typhimurium in human epithelial cells","volume":"115","author":"Forbester","year":"2018","journal-title":"Proc Natl Acad Sci U S A."},{"key":"B122","doi-asserted-by":"publisher","first-page":"2033","DOI":"10.1056\/NEJMoa0907206","article-title":"Inflammatory bowel disease and mutations affecting the interleukin-10 receptor","volume":"361","author":"Glocker","year":"2009","journal-title":"N Engl J Med."},{"key":"B123","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1016\/j.clim.2019.05.007","article-title":"Candidiasis associated with very early onset inflammatory bowel disease: first IL10RB deficient case from the National Iranian Registry and review of the literature","volume":"205","author":"Yazdani","year":"2019","journal-title":"Clin Immunol."},{"key":"B124","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1016\/j.coi.2021.07.011","article-title":"Infections in the monogenic autoimmune syndrome APECED","volume":"72","author":"Oikonomou","year":"2021","journal-title":"Curr Opin Immunol."},{"key":"B125","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1146\/annurev-immunol-042617-053318","article-title":"Host control of fungal infections: lessons from basic studies and human cohorts","volume":"36","author":"Lionakis","year":"2018","journal-title":"Annu Rev Immunol."},{"key":"B126","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":"B127","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":"B128","doi-asserted-by":"crossref","DOI":"10.1007\/s40618-021-01585-6","article-title":"Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients","volume-title":"J Endocrinol Invest","author":"Garelli","year":"2021"},{"key":"B129","doi-asserted-by":"publisher","first-page":"807","DOI":"10.1080\/1744666X.2021.1925543","article-title":"Clinical, immunological, and genetic features in 938 patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a systematic review","volume":"17","author":"Sharifinejad","year":"2021","journal-title":"Expert Rev Clin Immunol"},{"key":"B130","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":"B131","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":"B132","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's disease","volume":"158","author":"Ng'weina","year":"2008","journal-title":"Eur J Endocrinol."},{"key":"B133","doi-asserted-by":"publisher","first-page":"2843","DOI":"10.1210\/jc.2005-2611","article-title":"Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy","volume":"91","author":"Perheentupa","year":"2006","journal-title":"J Clin Endocrinol Metab."},{"key":"B134","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":"B135","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":"B136","doi-asserted-by":"publisher","first-page":"661","DOI":"10.1007\/s40618-020-01376-5","article-title":"Autoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients","volume":"44","author":"Fierabracci","year":"2021","journal-title":"J Endocrinol Invest."},{"key":"B137","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1016\/j.clim.2018.06.012","article-title":"APECED in Turkey: A case report and insights on genetic and phenotypic variability","volume":"194","author":"Fierabracci","year":"2018","journal-title":"Clin Immunol."},{"key":"B138","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1016\/j.clim.2018.09.012","article-title":"The heterogeneity of autoimmune polyendocrine syndrome type 1: Clinical features, new mutations and cytokine autoantibodies in a Brazilian cohort from tertiary care centers","volume":"197","author":"Weiler","year":"2018","journal-title":"Clin Immunol."},{"key":"B139","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1016\/0002-9343(91)90215-J","article-title":"Frequent occurrence of asplenism and cholelithiasis in patients with autoimmune polyglandular disease type I","volume":"91","author":"Friedman","year":"1991","journal-title":"Am J Med."},{"key":"B140","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":"B141","doi-asserted-by":"publisher","first-page":"e338","DOI":"10.1097\/MPH.0b013e3182755c52","article-title":"Response of pure red cell aplasia to cyclophosphamide after failure of mycofenolate mofetil in a patient with polyglandular syndrome type I","volume":"35","author":"Orlova","year":"2013","journal-title":"J Pediatr Hematol Oncol."},{"key":"B142","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1515\/jpem-2015-0018","article-title":"Thyrotropin-secreting pituitary adenoma in an 11-year-old boy with type 1 autoimmune polyglandular syndrome","volume":"29","author":"Mazerkina","year":"2016","journal-title":"J Pediatr Endocrinol Metab."},{"key":"B143","doi-asserted-by":"publisher","first-page":"e4","DOI":"10.1053\/j.gastro.2019.12.040","article-title":"Progressive Small Bowel Obstruction in a Patient With the Autoimmune Syndrome APECED","volume":"159","author":"Ferre","year":"2020","journal-title":"Gastroenterology."},{"key":"B144","doi-asserted-by":"publisher","first-page":"790","DOI":"10.14309\/ajg.0000000000000599","article-title":"Peritonitis on fasting-refeeding in APECED patients: a case series","volume":"115","author":"Hadjiyannis","year":"2020","journal-title":"Am J Gastroenterol."},{"key":"B145","doi-asserted-by":"publisher","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."},{"key":"B146","doi-asserted-by":"publisher","first-page":"1404","DOI":"10.1016\/j.jid.2020.10.016","article-title":"NLRP3 inhibition ameliorates severe cutaneous autoimmune manifestations in a mouse model of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy-like disease","volume":"141","author":"Zhu","year":"2021","journal-title":"J Invest Dermatol."},{"key":"B147","doi-asserted-by":"publisher","first-page":"670624","DOI":"10.3389\/fdmed.2021.670624","article-title":"Case report: dental findings can aid in early diagnosis of APECED syndrome","volume":"2","author":"Brenchley","year":"2021","journal-title":"Front Dent Med."},{"key":"B148","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1007\/BF03262642","article-title":"Oral health in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)","volume":"9","author":"Mcgovern","year":"2008","journal-title":"Eur Arch Paediatr Dent."},{"key":"B149","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1111\/j.1600-0714.1998.tb01956.x","article-title":"Assessment of enamel hypoplasia in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)","volume":"27","author":"Perniola","year":"1998","journal-title":"J Oral Pathol Med."},{"key":"B150","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1053\/j.gastro.2015.05.009","article-title":"Gastrointestinal Autoimmunity Associated With Loss of Central Tolerance to Enteric alpha-Defensins","volume":"149","author":"Dobes","year":"2015","journal-title":"Gastroenterology."},{"key":"B151","doi-asserted-by":"publisher","first-page":"876","DOI":"10.1016\/j.jaci.2021.03.025","article-title":"Cytokine-specific autoantibodies shape the gut microbiome in autoimmune polyendocrine syndrome type 1","volume":"148","author":"Petersen","year":"2021","journal-title":"J Allergy Clin Immunol"},{"key":"B152","doi-asserted-by":"publisher","first-page":"704","DOI":"10.1210\/jc.2012-2734","article-title":"Tryptophan hydroxylase autoantibodies as markers of a distinct autoimmune gastrointestinal component of autoimmune polyendocrine syndrome type 1","volume":"98","author":"Scarpa","year":"2013","journal-title":"J Clin Endocrinol Metab."},{"key":"B153","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1111\/cen.12087","article-title":"What is the burden of living with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) in 2012? A health-related quality-of-life assessment in Finnish patients","volume":"79","author":"Kluger","year":"2013","journal-title":"Clin Endocrinol (Oxf)."},{"key":"B154","doi-asserted-by":"crossref","DOI":"10.1210\/clinem\/dgaa140","article-title":"Patients With APECED Have Increased Early Mortality Due to Endocrine Causes, Malignancies and infections","volume-title":"J Clin Endocrinol Metab.","author":"Borchers","year":"2020"},{"key":"B155","doi-asserted-by":"publisher","first-page":"109","DOI":"10.3389\/fendo.2020.00109","article-title":"Severe Phenotype of APECED (APS1) Increases Risk for Structural Bone Alterations","volume":"11","author":"Laakso","year":"2020","journal-title":"Front Endocrinol (Lausanne)."},{"key":"B156","doi-asserted-by":"publisher","first-page":"463","DOI":"10.3389\/fendo.2018.00463","article-title":"Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1","volume":"9","author":"Bruserud","year":"2018","journal-title":"Front Endocrinol (Lausanne)."},{"key":"B157","doi-asserted-by":"crossref","DOI":"10.1016\/j.chom.2017.03.006","article-title":"Autoreactive T cells and chronic fungal infection drive esophageal carcinogenesis","volume-title":"Cell Host Microbe.","author":"Zhu","year":"2017"},{"key":"B158","doi-asserted-by":"publisher","first-page":"2089","DOI":"10.1093\/jac\/dky170","article-title":"VT-1598 inhibits the in vitro growth of mucosal Candida strains and protects against fluconazole-susceptible and -resistant oral candidiasis in IL-17 signalling-deficient mice","volume":"73","author":"Break","year":"2018","journal-title":"J Antimicrob Chemother."},{"key":"B159","doi-asserted-by":"publisher","first-page":"2505","DOI":"10.1093\/jac\/dkq354","article-title":"Persistent Candida albicans colonization and molecular mechanisms of azole resistance in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) patients","volume":"65","author":"Siikala","year":"2010","journal-title":"J Antimicrob Chemother."},{"key":"B160","doi-asserted-by":"publisher","first-page":"551","DOI":"10.1016\/j.jaci.2014.12.1867","article-title":"Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation","volume":"135","author":"Higgins","year":"2015","journal-title":"J Allergy Clin Immunol."},{"key":"B161","doi-asserted-by":"publisher","first-page":"115977","DOI":"10.1016\/j.bone.2021.115977","article-title":"Therapy with PTH 1-34 or calcitriol and calcium in diverse etiologies of hypoparathyroidism over 27 years at a single tertiary care center","volume":"149","author":"Winer","year":"2021","journal-title":"Bone."},{"key":"B162","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1016\/S2213-8587(13)70106-2","article-title":"ya","volume":"1","author":"Mannstadt","year":"2013","journal-title":"Lancet Diabetes Endocrinol."},{"key":"B163","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1111\/cen.14335","article-title":"Impact of periprocedural subcutaneous parathyroid hormone on control of hypocalcaemia in APS-1\/APECED patients undergoing invasive procedures","volume":"94","author":"Winer","year":"2021","journal-title":"Clin Endocrinol (Oxf)."},{"key":"B164","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1530\/EJE-20-0516","article-title":"Pubertal development and premature ovarian insufficiency in patients with APECED","volume":"183","author":"Saari","year":"2020","journal-title":"Eur J Endocrinol."},{"key":"B165","doi-asserted-by":"publisher","first-page":"136","DOI":"10.4997\/JRCPE.2015.210","article-title":"Fulminant hepatic failure in autoimmune polyendocrine syndrome type-1","volume":"45","author":"Sinha","year":"2015","journal-title":"J R Coll Physicians Edinb."},{"key":"B166","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1034\/j.1399-3046.2002.01063.x","article-title":"Orthotopic liver transplantation for acute liver failure secondary to autoimmune hepatitis in a child with autoimmune polyglandular syndrome type 1","volume":"6","author":"Smith","year":"2002","journal-title":"Pediatr Transplant."},{"key":"B167","doi-asserted-by":"crossref","DOI":"10.1097\/PG9.0000000000000131","article-title":"Mycophenolate-induced colitis in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients","volume-title":"JPGN Rep in press.","author":"Schmitt","year":"2021"},{"key":"B168","doi-asserted-by":"publisher","first-page":"101476","DOI":"10.1016\/j.rmcr.2021.101476","article-title":"Fatal autoimmune pneumonitis requiring bilobectomy and omental flap repair in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)","volume":"33","author":"Kubala","year":"2021","journal-title":"Respir Med Case Rep."},{"key":"B169","doi-asserted-by":"publisher","first-page":"1750","DOI":"10.1093\/ndt\/gfu064","article-title":"Kidney involvement in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in a Finnish cohort","volume":"29","author":"Kluger","year":"2014","journal-title":"Nephrol Dial Transplant."},{"key":"B170","doi-asserted-by":"publisher","first-page":"358","DOI":"10.5414\/CN108782","article-title":"Autoimmune polyglandular syndrome type I can have significant kidney disease in children including recurrence in renal allograft - a report of two cases","volume":"85","author":"Gwertzman","year":"2016","journal-title":"Clin Nephrol."},{"key":"B171","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1210\/jc.2005-1538","article-title":"Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activity","volume":"91","author":"Ulinski","year":"2006","journal-title":"J Clin Endocrinol Metab."},{"key":"B172","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1182\/blood.2019003900","article-title":"Fulminant pneumococcal sepsis due to APECED-associated autoimmune asplenia","volume":"135","author":"Schmitt","year":"2020","journal-title":"Blood."},{"key":"B173","doi-asserted-by":"publisher","first-page":"51","DOI":"10.3389\/fped.2019.00051","article-title":"Pure red cell aplasia (PRCA) and cerebellar hypoplasia as atypical features of polyglandular autoimmune syndrome type I (APS-1): two sisters with the same AIRE mutation but different phenotypes","volume":"7","author":"Chinello","year":"2019","journal-title":"Front Pediatr."}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2021.723532\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,14]],"date-time":"2023-01-14T06:52:41Z","timestamp":1673679161000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2021.723532\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,1]]},"references-count":173,"alternative-id":["10.3389\/fped.2021.723532"],"URL":"https:\/\/doi.org\/10.3389\/fped.2021.723532","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,1]]},"article-number":"723532"}}