{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T19:10:11Z","timestamp":1790536211378,"version":"4.1.0"},"reference-count":26,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2021,1,26]],"date-time":"2021-01-26T00:00:00Z","timestamp":1611619200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy (APECED), caused by mutations in the AIRE gene, is mainly characterized by the triad of hypoparathyroidism, primary adrenocortical insufficiency and chronic mucocutaneous candidiasis, but can include many other manifestations, with no currently clear genotype\u2013phenotype correlation. We present the clinical features of two siblings, a male and a female, with the same mutations in the AIRE gene associated with two very different phenotypes. Interestingly, the brother recently experienced COVID-19 infection with pneumonia, complicated by hypertension, hypokalemia and hypercalcemia. Although APECED is a monogenic disease, its expressiveness can be extremely different. In addition to the genetic basis, epigenetic and environmental factors might influence the phenotypic expression, although their exact role remains to be elucidated.<\/jats:p>","DOI":"10.3390\/genes12020169","type":"journal-article","created":{"date-parts":[[2021,1,26]],"date-time":"2021-01-26T23:01:28Z","timestamp":1611702088000},"page":"169","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Autoimmune Polyendocrinopathy\u2013Candidiasis\u2013Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2040-9228","authenticated-orcid":false,"given":"Andrea","family":"Carpino","sequence":"first","affiliation":[{"name":"Postgraduate School of Pediatrics, University of Turin, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaele","family":"Buganza","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Unit, Regina Margherita Children\u2019s Hospital, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Matarazzo","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Unit, Regina Margherita Children\u2019s Hospital, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerdi","family":"Tuli","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Unit, Regina Margherita Children\u2019s Hospital, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Pinon","sequence":"additional","affiliation":[{"name":"Pediatric Gastroenterology Unit, Regina Margherita Children\u2019s Hospital, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pier Luigi","family":"Calvo","sequence":"additional","affiliation":[{"name":"Pediatric Gastroenterology Unit, Regina Margherita Children\u2019s Hospital, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Montin","sequence":"additional","affiliation":[{"name":"Pediatric Immunology and Rheumatology, Regina Margherita Children\u2019s Hospital, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Licciardi","sequence":"additional","affiliation":[{"name":"Pediatric Immunology and Rheumatology, Regina Margherita Children\u2019s Hospital, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"De Sanctis","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Unit, Regina Margherita Children\u2019s Hospital, 10126 Turin, Italy"},{"name":"Department of Public Health and Pediatric Sciences, University of Turin, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,1,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","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. 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