Gene Dosage–limiting Role of <i>Aire</i> in Thymic Expression, Clonal Deletion, and Organ-specific Autoimmunity

Abstract excerpt

Inactivation of the autoimmune regulator (Aire) gene causes a rare recessive disorder, autoimmune polyendocrine syndrome 1 (APS1), but it is not known if Aire-dependent tolerance mechanisms are susceptible to the quantitative genetic changes thought to underlie more common autoimmune diseases. In mice with a targeted mutation, complete loss of Aire abolished expression of an insulin promoter transgene in thymic...

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