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Arquivos Brasileiros de Endocrinologia & Metabologia

On-line version ISSN 1677-9487

Abstract

WEILER, Fernanda Guimarães; DIAS-DA-SILVA, Magnus R.  and  LAZARETTI-CASTRO, Marise. Autoimmune polyendocrine syndrome type 1: case report and review of literature. Arq Bras Endocrinol Metab [online]. 2012, vol.56, n.1, pp.54-66. ISSN 1677-9487.  http://dx.doi.org/10.1590/S0004-27302012000100009.

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, hypoparathyroidism and adrenal failure, many other components may develop. Treatment is based on supplementation of the various deficiencies, and patients require regular follow-up throughout their lifespan. This article describes the case of a patient with the disease, and reviews literature data on the epidemiology, clinical course, immunogenetic aspects, diagnosis and treatment of the syndrome.

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