Human inborn errors of immunity associated with IRF4

The transcription factor interferon regulatory factor 4 (IRF4) belongs to the IRF family and has several important functions for the adaptive immune response. Mutations affecting IRF family members IRF1, IRF3, IRF7, IRF8, or IRF9 have been described in patients presenting with inborn errors of immun...

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Bibliographic Details
Published in:Frontiers in immunology 2023-09, Vol.14, p.1236889-1236889
Main Authors: Thouenon, Romane, Kracker, Sven
Format: Article
Language:English
Subjects:
cancer
Immunology
inborn errors of immunity
interferon regulatory factor family
IRF4
Life Sciences
primary antibody deficiency
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Summary:The transcription factor interferon regulatory factor 4 (IRF4) belongs to the IRF family and has several important functions for the adaptive immune response. Mutations affecting IRF family members IRF1, IRF3, IRF7, IRF8, or IRF9 have been described in patients presenting with inborn errors of immunity (IEI) highlighting the importance of these factors for the cellular host defense against mycobacterial and/or viral infections. IRF4 deficiency and haploinsufficiency have been associated with IEI. More recently, two novel IRF4 disease-causing mechanisms have been described due to the characterization of IEI patients presenting with cellular immunodeficiency associated with agammaglobulinemia. Here, we review the phenotypes and physiopathological mechanisms underlying IEI of IRF family members and, in particular, IRF4.
ISSN:1664-3224
1664-3224
DOI:10.3389/fimmu.2023.1236889