Article

Rare <i>SH2B3</i> coding variants identified in lupus patients impair B cell tolerance and predispose to autoimmunity

2023-04-29

Abstract excerpt

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 unlik...

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Literature Corpus work: d587e17f-bc1d-580c-8a56-ab75d0bba81f
DOI: 10.1101/2023.04.27.538529

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