Leading the way to a cure


Functional Analysis of Csk: A Newly Defined Risk Gene for Lupus

Gregersen, Peter, MD

Feinstein Institute for Medical Research

In recent years, researchers, many of them funded by the Alliance for Lupus Research, have identified a plethora of genes and genetic variants likely responsible for the dysfunctional immune responses that underlies lupus. 

Dr. Gregersen and his team identified one such gene, Csk, which is directly involved in setting the threshold for immune cell activation, or their “call to action.” It is also associated with several other autoimmune disorders, including scleroderma and celiac disease. 

The team has found a particular genetic variation in this gene that influences how much of the Csk protein is produced, particularly in B cells, which produce the autoantibodies that are the hallmark of lupus. The team also showed that the amount of Csk in B cells, particularly B cells early in their development, have a profound effect on the number of these cells and their ability to be activated. They have also found that Csk interacts with other known risk genes for lupus, including Lyn and PTPN22. 

With their grant, Dr. Gregersen and his team will explore further the role Csk plays in B cell aberrations and the development of lupus. 

What this study means for people with lupus: A better understanding of the role of Csk in B cell regulation and the development of lupus could help identify new approaches to therapy or even opportunities to manipulate B cells early in their development so they can’t contribute to the development of autoimmune diseases like lupus.

1.5 million

people in the U.S. have Lupus.

172 million

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