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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...

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Autores principales: Carpino, Andrea, Buganza, Raffaele, Matarazzo, Patrizia, Tuli, Gerdi, Pinon, Michele, Calvo, Pier Luigi, Montin, Davide, Licciardi, Francesco, De Sanctis, Luisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
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.
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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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