遇见数据集

Novel IRF2BP2 variants in CVID patients

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NIAID Data Ecosystem2026-03-13 收录
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IFN regulatory factor 2 binding protein (IRF2BP2). Variants in IRF2BP2 have recently been reported in familial CVID, immune dysregulation, and inflammatory conditions. This study investigated three rare novel variants identified in patients with primary antibody deficiency and autoimmunity using whole exome-sequencing (WES).

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2022-08-11
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