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Review
. 2011 Jan;7(1):25-33.
doi: 10.1038/nrendo.2010.200. Epub 2010 Nov 23.

The role of AIRE in human autoimmune disease

Eitan M Akirav  1 , Nancy H Ruddle, Kevan C Herold
Affiliations
Review

The role of AIRE in human autoimmune disease

Eitan M Akirav et al. Nat Rev Endocrinol. 2011 Jan.

Abstract

The autoimmune regulator (AIRE) gene encodes a transcription factor involved in the presentation of tissue-restricted antigens during T-cell development in the thymus. Mutations of this gene lead to type 1 autoimmune polyglandular syndrome (APS-1), also termed autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome, which is characterized by the clinical presentation of at least two of a triad of underlying disorders: Addison disease, hypoparathyroidism and chronic mucocutaneous candidiasis. This Review describes the process of positive and negative selection of developing T cells in the thymus and the role of AIRE as a regulator of peripheral antigen presentation. Furthermore, it addresses how mutations of this gene lead to the failure to eliminate autoreactive T cells, which can lead to clinical autoimmune syndromes.

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