Human inborn errors of immunity associated with IRF4

Frontiers in Immunology

Immunology

Sven Kracker¹  Romane Thouenon¹ 

[1] Université Paris Cité, Paris, France;Laboratory of Human Lymphohematopoiesis, Imagine Institute, INSERM UMR, Paris, France;

关键词: interferon regulatory factor family;    IRF4;    inborn errors of immunity;    cancer;    primary antibody deficiency;   

DOI  :  10.3389/fimmu.2023.1236889

 received in 2023-06-08, accepted in 2023-09-05,  发布年份 2023

来源: Frontiers

【 摘 要 】

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.

【 授权许可】

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Copyright © 2023 Thouenon and Kracker