Table 1.

Conditions that affect AIRE expression or function.

	Effect on thymic Aire	Mechanism	Reference
Classical APS-1	Absent	Autosomal recessive homozygous or compound heterozygous AIRE mutations	[7]
Non-classical APS	Reduced to absent	Autosomal dominant Aire mutations	[13]
Thymomas	Reduced	Reduced Aire transcripts in neoplastic TEC cells	[51]
Graft-versus-host disease	Reduced	Destruction of recipient mTEC hi cells by donor T cells	[52]
Sexual Dimorphism	Reduced by estrogen and progesterone Increased by androgens	Sex hormones affect Aire mRNA levels or TSA expression	[53,54]
Rag Mutations	Reduced	Reduced numbers of developing thymocytes lead to loss of Aire-enhancing signals	[55]