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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Autores principales: Capalbo, Donatella, De Martino, Lucia, Giardino, Giuliana, Di Mase, Raffaella, Di Donato, Iolanda, Parenti, Giancarlo, Vajro, Pietro, Pignata, Claudio, Salerno, Mariacarolina
Formato: Artigo
Lenguaje:Inglês
Publicado: Hindawi Publishing Corporation 2012
Materias:
Review Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3485503/
https://ncbi.nlm.nih.gov/pubmed/23133448
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2012/353250
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