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Article

Autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy in Calabria: clinical, immunological and genetic patterns.

Journal of endocrinological investigation - 1 Nov 2012

Betterle C, Ghizzoni L, Cassio A, Baronio F, Cervato S, Garelli S, Barbi E, Tonini G

Abstract excerpt

UNLABELLED: Autoimmune polyendocrinopathy-candidiasis-ectodermal- dystrophy (APECED), also known as autoimmune polyendocrine syndrome type 1 (APS-1), is a very rare disease. Diagnosis requires the presence of at least two of three major clinical features: chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and Addison's disease. DESIGN: In this study, we analyzed Autoimmune Regulator (AIRE) gene...

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PMID: 22104652
DOI: 10.3275/8109

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AIRE

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