A Human MSH6 Germline Variant Associated With Systemic Lupus Erythematosus Induces Lupus-like Disease in Mice.
Rithy MeasJoanne NitithamKimberly E TaylorStephen MaherKaylyn ClairmontKelly E W CarufeMichael KashgarianTimothy NottoliAna CheongZachary D NagelPatrick M GaffneyLindsey A CriswellJoann B SweasyPublished in: ACR open rheumatology (2022)
An MSH6 mutation that is enriched in humans diagnosed with lupus was identified. Mice harboring this Msh6 mutation develop increased autoantibodies and an inflammatory lung disease. These results suggest that the human MSH6 variant is linked to the development of SLE.