Details

Autor(en) / Beteiligte

• Akirav, Eitan M
• Ruddle, Nancy H
• Herold, Kevan C

Titel

The role of AIRE in human autoimmune disease

Ist Teil von

• Nature reviews. Endocrinology, 2011-01, Vol.7 (1), p.25-33

Ort / Verlag

England

Erscheinungsjahr

2011

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.