The autoimmune regulator gene (AIRE) is strongly associated with vitiligo

Abstract

The link between vitiligo and AIRE raises the possibility that defective skin peripheral antigen selection in the thymus is involved in the changes that result in melanocyte destruction in this disorder.

Alopecia areata: a review of disease pathogenesis

“…Any self‐antigen expressed in thymic epithelial cells is secured from autoimmunity due to negative selection of T cells expressing reactive T‐cell receptors . AIRE dysfunction allows a range of naive autoreactive T cells (possibly against HFs) to go on unrecognized, increasing the possibility for autoimmune diseases . Several studies have revealed the association of AIRE gene polymorphisms with non‐APECED AA …”

Association of rs2075876 polymorphism of AIRE gene with rheumatoid arthritis risk

“…It has been noticed that several autoimmune disorders, such as vitiligo [10], autoimmune hepatitis [11], type 1 diabetes mellitus [12], myasthenia gravis [13] and systemic sclerosis [14], might be affected by the genetic variability of AIRE gene. A recent GWA study in Japanese population has been identified two SNPs, rs2075876 and rs760426, in the AIRE gene was significant associated with RA risk [2].…”

Aire Deficiency Promotes TRP-1–Specific Immune Rejection of Melanoma

“…Patients with mutations in Aire have an 18 to 36-fold increased risk of developing vitiligo compared to the general population (9), and genetic polymorphisms in Aire have been associated with vitiligo development in a case control study (10). Within the thymus, Aire upregulates expression of a large number of tissue specific self-antigens in medullary thymic epithelial cells (mTECs) (11–13).…”