A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.
Journal
Science immunology
ISSN: 2470-9468
Titre abrégé: Sci Immunol
Pays: United States
ID NLM: 101688624
Informations de publication
Date de publication:
20 01 2023
20 01 2023
Historique:
entrez:
20
1
2023
pubmed:
21
1
2023
medline:
25
1
2023
Statut:
ppublish
Résumé
Interferon regulatory factor 4 (IRF4) is a transcription factor (TF) and key regulator of immune cell development and function. We report a recurrent heterozygous mutation in IRF4, p.T95R, causing an autosomal dominant combined immunodeficiency (CID) in seven patients from six unrelated families. The patients exhibited profound susceptibility to opportunistic infections, notably
Identifiants
pubmed: 36662884
doi: 10.1126/sciimmunol.ade7953
doi:
Substances chimiques
Interferon Regulatory Factors
0
DNA
9007-49-2
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM