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While most SLE patients carry rare gene variants in lupus risk genes, little is known about their contribution to disease pathogenesis. Amongst them, SH2B3\u2014a negative regulator of cytokine and growth factor receptor signaling\u2014harbors 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 predominantly hypomorphic alleles, failing to suppress IFNGR signaling via JAK2-STAT1. The generation of two mouse lines carrying patients\u2019 variants revealed that SH2B3 is important in limiting the number of immature and transitional B cells. Furthermore, hypomorphic SH2B3 was shown to impair the negative selection of immature\/transitional self-reactive B cells and accelerate autoimmunity in sensitized mice, at least in part due to increased IL-4R signaling and BAFF-R expression. This work identifies a previously unappreciated role for SH2B3 in human B cell tolerance and lupus risk.<\/jats:p>","DOI":"10.1084\/jem.20221080","type":"journal-article","created":{"date-parts":[[2024,1,18]],"date-time":"2024-01-18T02:21:04Z","timestamp":1705544464000},"update-policy":"https:\/\/doi.org\/10.1084\/jem.crossmarkpolicy","source":"Crossref","is-referenced-by-count":12,"title":["Rare\n                    <i>SH2B3<\/i>\n                    coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity"],"prefix":"10.1084","volume":"221","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0256-098X","authenticated-orcid":true,"given":"Yaoyuan","family":"Zhang","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/019wvm592","id-type":"ROR","asserted-by":"publisher"}],"name":"John Curtin School of Medical Research, The Australian National University 1 Division of Immunology and Infectious Diseases, , Acton, 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