Endocrine Abstracts

AIRE gene is defective in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) disease. The disease usually starts in early childhood and is characterized by progressive autoimmune destruction of many endocrine and non-endocrine organs and, in addition, mucocutaneous candidiasis. An important characteristic is the presence of autoantibodies against multiple defined antigens. In most cases, these are tissue-specific proteins with important functions in the affected tissues and are identical to the self-antigens found in more common isolated autoimmune disorders such as type 1 diabetes and Addison’s disease. AIRE is expressed in the thymus by medullary thymic epithelial cells, which express hundreds of tissue-specific antigens to eliminate self-reactive T cell clones during a process called negative selection. AIRE mutations result in defective expression of these autoantigens, ultimately causing a failure in negative selection and subsequent survival of self-reactive T cells. The exact mechanisms by which AIRE functions remain unclear. The presentation discusses recent findings in AIRE function and their implications to APECED pathogenesis.

Disclosure: This work was supported by the Estonian Research Council.