Article
A non-classical presentation of APECED in a family with heterozygous R203X AIRE gene mutation.
Journal of endocrinological investigation - 1 Mar 2023
Radetti G, Puel A, Franceschi R, Longhi S, Gallo N, Betterle C
Abstract excerpt
PURPOSE: Biallelic loss-of-function mutations of AIRE cause the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome. However, single nucleotide mutations may cause a milder phenotype. In this paper, we describe an unusual and mild phenotype in a mother and her two children (son and daughter) who carry a rare heterozygous mutation of AIRE. METHODS AND RESULTS: The son presented with...
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