Hematopoietic-specific protein tyrosine phosphatase gene.
Pathology
polymorphisms of PTPN22 in susceptibility for four autoimmune diseases (15719322). The autoimmune-predisposing allele is a gain-of-function mutant (16273109).
- rheumatoid arthritis (16096982)
- systemic lupus erythematosus
- type 1 diabetes
- Hashimoto thyroiditis
- Graves thyroiditis
- Addison disease
- other autoimmune disorders
See also
References
Vang T, Congia M, Macis MD, Musumeci L, Orru V, Zavattari P, Nika K, Tautz L, Tasken K, Cucca F, Mustelin T, Bottini N. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet. 2005 Dec;37(12):1317-9. PMID: 16273109