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AIRE

MIM.607358 21q22.3

Tuesday 5 October 2004

- AIRE is predominantly expressed in medullary epithelial cells of the thymus and is considered to play important roles in the establishment of self-tolerance.

- AIRE contains two plant homeodomain (PHD) domains, and the novel role of PHD as an E3 ubiquitin (Ub) ligase has just emerged. The first PHD (PHD1) of AIRE mediates E3 ligase activity.

- AIRE has an indispensable role of the Ub proteasome pathway in the establishment of self-tolerance, in which AIRE is involved.

Pathology

- germline mutation of the AIRE gene in

  • APECED
    • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder defined by the presence of two of three conditions, namely, Addison’s disease, hypoparathyroidism, and mucocutaneous candidiasis.
    • The disease-causing missense mutations in the PHD1 (C311Y and P326Q) abolished its E3 ligase activity.