Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare autosomal recessive disease, caused by mutations of a single gene named autoimmune regulator gene (AIRE) which results in a failure of T cell tolerance within the thymus. Chronic mucocutaneous candidiasis, chronic hypo...

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Bibliographic Details
Main Authors: Donatella Capalbo, Lucia De Martino, Giuliana Giardino, Raffaella Di Mase, Iolanda Di Donato, Giancarlo Parenti, Pietro Vajro, Claudio Pignata, Mariacarolina Salerno
Format: Article
Language:English
Published: Wiley 2012-01-01
Series:International Journal of Endocrinology
Online Access:http://dx.doi.org/10.1155/2012/353250
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