APECED

 

 

APECED - Patients develop mucocutaneous candidiasis and endocrinopathies. Hypoparathyroidism and adrenocortical failure (Addison disease) are the most common endocrine manifestations. Less common features include ovarian failure, type I diabetes, and hypothyroidism. 

 

APECED is caused by mutations in the gene for AIRE.  AIRE is prominently expressed in medullary thymic epithelial cells.  In the thymus, AIRE induces ectopic expression of self-antigens that are otherwise restricted to peripheral tissues.  This allows for negative selection of self-reactive T cells and induction of central tolerance.  Lack of AIRE expression allows for autoreactive T cells to escape thymic negative selection  these cells cause multi-organ autoimmunity in the periphery.  

 

 

APECED