Human inborn errors of immunity associated with IRF4.
IRF4
cancer
inborn errors of immunity
interferon regulatory factor family
primary antibody deficiency
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2023
2023
Historique:
received:
08
06
2023
accepted:
05
09
2023
medline:
1
11
2023
pubmed:
9
10
2023
entrez:
9
10
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37809068
doi: 10.3389/fimmu.2023.1236889
pmc: PMC10556498
doi:
Substances chimiques
Interferon Regulatory Factors
0
interferon regulatory factor-4
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1236889Informations de copyright
Copyright © 2023 Thouenon and Kracker.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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