Description: 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).

Data type: raw sequence reads

Sample scope: Multispecies

Relevance: Medical

Last updated: 2022-08-11