Human inborn errors of immunity associated with IRF4

The transcription factor interferon regulatory 4 (IRF4) belongs to the IRF family and has several important functions for adaptive immune response. Mutations affecting members IRF1, IRF3, IRF7, IRF8, or IRF9 have been described in patients presenting with inborn errors of immunity (IEI) highlighting importance these factors cellular host defense against mycobacterial and/or viral infections. IRF4 deficiency haploinsufficiency associated IEI. More recently, two novel disease-causing mechanisms due characterization IEI immunodeficiency agammaglobulinemia. Here, we review phenotypes physiopathological underlying and, particular, IRF4.