Article
Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives.
Clinical endocrinology - 1 Mar 2009
Cervato Sara, Mariniello Barbara, Lazzarotto Francesca, Morlin Luca, Zanchetta Renato, Radetti Giorgio, De Luca Filippo, Valenzise Mariella, Giordano Roberta, Rizzo Daniela, Giordano Carla, Betterle Corrado
Abstract excerpt
OBJECTIVE: Autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) is a rare syndrome characterized by chronic candidiasis, chronic hypoparathyroidism and Addison's disease. APECED has been associated with mutations in autoimmune regulator (AIRE) gene. Our aim is to perform a genetic analysis of the AIRE gene in Italian APECED patients and in their relatives. Design AIRE mutations were determined...
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