Absence of some common organ-specific and non-organ-specific autoimmunity in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy

摘要

BackgroundAutoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations of the autoimmune regulator (AIRE) gene, whose loss of function leads to the escape of self-reactive T cells from the thymus and autoimmunity. APECED patients typically develop tissue-specific autoantibodies and anti-cytokine antibodies. Consequently, various endocrine and non-endocrine autoimmune disorders appear. However, only a certain number of autoimmune diseases develop, while some common autoimmune conditions have not been reported or are seen only anecdotally.