Article
Autoimmune polyendocrine syndrome type 1: case report and review of literature.
Arquivos brasileiros de endocrinologia e metabologia - 1 Feb 2012
Weiler Fernanda Guimarães, Dias-da-Silva Magnus R, Lazaretti-Castro Marise
Abstract excerpt
Autoimmune polyendocrine syndrome type 1 (APECED) is a rare autosomal recessive disorder characterized by autoimmune multiorgan attack. The disease is caused by mutations in the autoimmune regulator gene (AIRE), resulting in defective AIRE protein, which is essential for selftolerance. Clinical manifestations are widely variable. Although the classic triad is composed by mucocutaneous candidiasis,...
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