Article
Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) in Sicily: confirmation that R203X is the peculiar AIRE gene mutation.
Journal of endocrinological investigation - 1 Apr 2012
Giordano C, Modica R, Allotta M L, Guarnotta V, Cervato S, Masiero S, Giordano R, Garelli S, Betterle C
Abstract excerpt
BACKGROUND: Autoimmune polyendocrinopathycandidiasis-ectodermal-dystrophy (APECED), also known as autoimmune polyendocrine syndrome type 1 (APS-1) (OMIM 240300), is a very rare disease. Accepted criteria for diagnosis require the presence of at least 2 of 3 major clinical features: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CH), and Addison's disease (AD). AIM: We analyzed AIRE gene...
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