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Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes
Autoimmune polyendocrinopathy–candidiasis–ectodermal 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 cu...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7912139/ https://www.ncbi.nlm.nih.gov/pubmed/33530632 http://dx.doi.org/10.3390/genes12020169 |
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author | Carpino, Andrea Buganza, Raffaele Matarazzo, Patrizia Tuli, Gerdi Pinon, Michele Calvo, Pier Luigi Montin, Davide Licciardi, Francesco De Sanctis, Luisa |
author_facet | Carpino, Andrea Buganza, Raffaele Matarazzo, Patrizia Tuli, Gerdi Pinon, Michele Calvo, Pier Luigi Montin, Davide Licciardi, Francesco De Sanctis, Luisa |
author_sort | Carpino, Andrea |
collection | PubMed |
description | Autoimmune polyendocrinopathy–candidiasis–ectodermal 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–phenotype 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. |
format | Online Article Text |
id | pubmed-7912139 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-79121392021-02-28 Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes Carpino, Andrea Buganza, Raffaele Matarazzo, Patrizia Tuli, Gerdi Pinon, Michele Calvo, Pier Luigi Montin, Davide Licciardi, Francesco De Sanctis, Luisa Genes (Basel) Case Report Autoimmune polyendocrinopathy–candidiasis–ectodermal 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–phenotype 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. MDPI 2021-01-26 /pmc/articles/PMC7912139/ /pubmed/33530632 http://dx.doi.org/10.3390/genes12020169 Text en © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Carpino, Andrea Buganza, Raffaele Matarazzo, Patrizia Tuli, Gerdi Pinon, Michele Calvo, Pier Luigi Montin, Davide Licciardi, Francesco De Sanctis, Luisa Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes |
title | Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes |
title_full | Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes |
title_fullStr | Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes |
title_full_unstemmed | Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes |
title_short | Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes |
title_sort | autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy in two siblings: same mutations but very different phenotypes |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7912139/ https://www.ncbi.nlm.nih.gov/pubmed/33530632 http://dx.doi.org/10.3390/genes12020169 |
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