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Abul K. Abbas, MD
Professor and Chair, Department of Pathology
University of California, San Francisco
San Francisco, CA 94143-0511
aabbas@itsa.ucsf.edu
Abul Abbas'
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Genetics of autoimmunity-from gene to disease phenotype.
Abstract:
The development of autoimmune diseases usually requires the inheritance of polymorphic genes that confer susceptibility to different diseases. Many genes may be involved in determining the choice between tolerance to self-antigens vs. autoimunity. Candidate genes have been analyzed in mice using transgenic and knockout technology. Some of these genes encode inhibitory receptors, such as CTLA-4, which is required for maintaining functional anergy to tissue antigens. Others encode death receptors, such as Fas, which maintains tolerance to systemic antigens. Mutations in multiple genes encoding regulatory molecules may cooperate to give rise to pathologic autoimmunity. The severity and phenotypes of these diseases are influenced by "background" genes whose products and functions remain poorly defined.