SNPs ofPTPN22, a 'shared autoimmunity gene', are important risk factors for rheumatoid arthritis, juvenile idiopathic arthritis and other autoimmune diseases. In this article, Stanford and Bottini review the function of mouse and human PTPN22 in Toll-like receptor and lymphocyte antigen-receptor signalling pathways, and suggest functional models for the involvement of PTPN22 variants in the pathogenesis of autoimmune diseases.
- Stephanie M. Stanford
- Nunzio Bottini