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Curr Opin Genet Dev. 2007 Jun;17(3):193-200. Epub 2007 Apr 26.

Lessons on immune tolerance from the monogenic disease APS1.

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  • 1University of California San Francisco Diabetes Center, HSW1102, San Francisco, CA 94143-0540, USA.


Autoimmunity is a complex disease process that results from a breakdown in the ability of the immune system to discriminate self from non-self. One approach to unraveling how autoimmunity occurs is to study monogenic diseases, for which a single gene defect is responsible. Recent work on the monogenic autoimmune disease 'autoimmune polyglandular syndrome type 1' (APS1) and on the causal gene of this disorder--autoimmune regulator (AIRE)--is providing new lessons on how immune tolerance is maintained.

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