title: Autoimmune polyendocrine syndrome type 1: case report and review of literature.
abstract: 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.
authors.affiliation: Bone and Mineral Unit, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, Brazil. fgweiler@unifesp.br
authors.forename: Fernanda Guimarães
authors.initials: FG
authors.lastname: Weiler
authors.forename: Magnus R
authors.initials: MR
authors.lastname: Dias-da-Silva
authors.forename: Marise
authors.initials: M
authors.lastname: Lazaretti-Castro
mesh_terms: D000328:Adult; D001323:Autoantibodies / Q000032:analysis; D015415:Biomarkers; D003241:Consanguinity; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics; D016884:Polyendocrinopathies, Autoimmune / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000276:immunology; D014157:Transcription Factors / Q000235:genetics / Q000276:immunology; D000096927:AIRE Protein
chemical_list: D001323:Autoantibodies; D015415:Biomarkers; D014157:Transcription Factors; D000096927:AIRE Protein