PTPN22: Setting thresholds for autoimmunity

被引:187
作者
Gregersen, Peter K.
Lee, Hye-Soon
Batliwalla, Franak
Begovich, Ann B.
机构
[1] N Shore LIJ Hlth Syst, Feinstein Inst Med Res, Robert S Boas Ctr Genom & Human Genet, Manhasset, NY 11030 USA
[2] Celera Diagnost, Alameda, CA USA
关键词
rheumatoid arthritis; genetics; phosphatase;
D O I
10.1016/j.smim.2006.03.009
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
The 620W allelic variant of the intracellular tyrosine phosphatase, PTPN22, is associated with a number of different autoimmune disorders, and this provides direct evidence for common mechanisms underlying many of these diseases. The associated allele appears to influence thresholds for T cell receptor signaling, and a variety of disease models involving both central and peripheral tolerance can be proposed. However, given the fact that PTPN22 is expressed in a variety of immunologically relevant cell types, the precise mechanisms for these associations remain unclear. In general, the PTPN22 620W allele appears to play a role in autoimmune disorders that have a prominent humoral component, suggesting that further investigation of PTPN22 activity in B cells will be useful. From a genetic perspective, the data highlights the genetic heterogeneity underlying autoimmunity in different ethnic groups. (C) 2006 Elsevier Ltd. All rights reserved.
引用
收藏
页码:214 / 223
页数:10
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