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Caracterização clínica, molecular e imunológica de pacientes com síndrome poliglandular autoimune do tipo 1
(Universidade Federal de São Paulo (UNIFESP), 2016-01-27)
Introduction: Autoimmune polyendocrine syndrome type 1 (APS1) is an autosomal recessive disorder defined by the association of at least two of the three major diseases: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, ...
Autoimmune polyendocrine syndrome type 1: case report and review of literature
(Sociedade Brasileira de Endocrinologia e Metabologia, 2012-02-01)
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 ...