Article
AIRE genetic variants and predisposition to polygenic autoimmune disease: The case of Graves' disease and a systematic literature review.
Human immunology - 1 Aug 2016
Colobran Roger, Giménez-Barcons Mireia, Marín-Sánchez Ana, Porta-Pardo Eduard, Pujol-Borrell Ricardo
Abstract excerpt
Autoimmune Regulator (AIRE) is a transcriptional regulator that is crucial for establishing central tolerance as illustrated by the Mendelian Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) syndrome associated with AIRE-inactivating recessive or dominant mutations. Polymorphisms in AIRE have been proposed to be implicated in genetic susceptibility to non-Mendelian organ specific autoimmune...
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