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The Role of Mutations on Gene AIRE in Autoimmune PolyendocrinopathyCandidiasis-Ectodermal Dystrophy Syndrom

Abstract:
APECED syndrome is an inherited genetic disorder that affects many organs in the body. Other features of the APECED immune system include an attack on the hormone-producing glandular network (endocrine system). The second characteristic of this disorder is hypoparathyroidism, which is a dysfunction of the parathyroid glands. APECED syndrome is caused by a mutation in the AIRE gene, which is located in the long arm of chromosome 21 as 21q22.3.