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

ABSTRACT:

Background

Autoimmune 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.

Objective

We investigated the clinical manifestations and occurrence of antinuclear antibodies (AN-Abs) and antibodies against extractable nuclear antigens, citrullinated

SUBMITTER: Kluger N 

PROVIDER: S-EPMC3680957 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature