Models to explore the molecular function and regulation of AIRE

  • T Lovewell
  • R Tazi-Ahnini


Mutations in the Autoimmune Regulator (AIRE) gene are responsible for Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED). Within the thymic medulla, AIRE regulates the expression of a large number of tissue-specific self-antigens (TSAs) and the recognisation of these TSAs by auto-reactive T-cells is a prerequisite step for thymic negative selection. APECED patients will therefore develop multi-organ autoimmune disease because of the defective role of AIRE in thymic negative selection. Aire-deficient mice also develop multi-organ autoimmune disease and in this review we will focus on how both animal and cellular models have been used to dissect biochemical function of AIRE/Aire which is an essential step toward the understanding disease pathogenesis.

Journal Identifiers

eISSN: 1110-8630