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Egyptian Journal of Medical Human Genetics

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Models to explore the molecular function and regulation of AIRE

T Lovewell, R Tazi-Ahnini

Abstract


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.



http://dx.doi.org/10.1016/j.ejmhg.2011.06.008
AJOL African Journals Online