Method for the determination of predisposition to autoimmune disease

摘要

Described are methods for determining the predisposition of a mammal for developing an autoimmune disease that is characterized by defective presentation of self antigens on the surface of antigen presenting cells. The methods involve identifying defects in the processing, transport, or presentation of self peptides by MHC class I molecules. Defects in or deletions of components of these processes result in decreased levels of normal MHC class I expression on the surface of mammalian antigen presenting cells. Identification of these defects or deletions, or observation of such a decreased level of MHC class I expression, is indicative of a predisposition for an individual developing an autoimmune disease characterized by improper self antigen presentation.