Human inborn errors of immunity associated with IRF4

Romane Thouenon; Sven Kracker

doi:10.3389/fimmu.2023.1236889

Human inborn errors of immunity associated with IRF4

Front Immunol. 2023 Sep 22:14:1236889. doi: 10.3389/fimmu.2023.1236889. eCollection 2023.

Authors

Romane Thouenon^{1

2}, Sven Kracker^{1

2}

Affiliations

¹ Université Paris Cité, Paris, France.
² Laboratory of Human Lymphohematopoiesis, Imagine Institute, INSERM UMR, Paris, France.

Abstract

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.

Keywords: IRF4; cancer; inborn errors of immunity; interferon regulatory factor family; primary antibody deficiency.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Adaptive Immunity*
Gene Expression Regulation
Humans
Interferon Regulatory Factors* / metabolism

Substances

Interferon Regulatory Factors
interferon regulatory factor-4

Grants and funding

The work was funded by the French state [via the Agence Nationale de la Recherche’s “Investissments d’avenir” program (ANR-10-IAHU-01) and grant ANR-19-CE17-0012-01 (ANR-AID)]. SK is a Centre National de la Recherche Scientifique staff researcher.