Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity.

We observed decreased CD4/CD8 T cell ratios in the peripheral blood of Sh2b3 E372K/+ , Sh2b3 E372K/E372K ( Figure S 4A, B ) and spleens of Sh2b3 R530Q/R530Q mice ( Figure S 4C ), but not in the peripheral blood of Sh2b3 R530Q mice ( Figure S 4B ) and only a slight trend in the spleens of Sh2b3 E372K/E372K mice ( Figure S 4C ).

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CD21 -/lo B cells, a population also reported to be elevated in SLE patients ( Wehr et al., 2004 ), showed a trend of increase in two SLE patients carrying rare SH2B3 variants and other SLE patients ( Figure 3J ).

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