A Novel Missense Mutation of AIRE Gene in a Patient with Autoimmune Polyendocrinopathy, Candidiasis and Ectodermal Dystrophy (APECED), Accompanied with Progressive Muscular Atrophy: Case Report and Review of the Literature in Japan.

Abstract excerpt

Autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED) also known as autoimmune polyglandular syndrome type I, is a rare autosomal recessive disorder that results in several autoimmune diseases due to mutations in the AIRE (autoimmune regulator) gene. A 39-year-old female patient developed chronic mucocutaneous candidiasis at 3 yrs, idiopathic hypoparathyroidism at 11 yrs, chronic hepatitis...

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