Article
Autoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients.
Journal of endocrinological investigation - 1 Apr 2021
Fierabracci A, Arena A, Toto F, Gallo N, Puel A, Migaud M, Kumar M, Chengappa K G, Gulati R, Negi V S, Betterle C
Abstract excerpt
BACKGROUND: Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) or autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive genetic disease due to mutations in the AIRE (AutoImmune REgulator) gene. The clinical diagnosis is classically based on the presence of at least two of the three main components: chronic mucocutaneous candidiasis, hypoparathyroidism and primary...
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