Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity
Yaoyuan Zhang,
Rhiannon Morris,
Grant J. Brown
et al.
Abstract:Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with a clear genetic component. While most SLE patients carry rare gene variants in lupus risk genes, little is known about their contribution to disease pathogenesis. Amongst them, SH2B3—a negative regulator of cytokine and growth factor receptor signaling—harbors rare coding variants in over 5% of SLE patients. Here, we show that unlike the variant found exclusively in healthy controls, SH2B3 rare variants found in lupus patients are pr… Show more
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