Defects of intrinsic and innate immunity
Gene: IRF4
IRF4 is a transcription factor involved in the regulation of innate immunity. Definitive gene-disease association - https://search.clinicalgenome.org/CCID:008358. The IUIS IEI committee categorises this gene as other inborn errors of immunity related to leukocytes.
Sources: Expert listCreated: 15 Dec 2024, 11:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
combined immunodeficiency MONDO:0015131
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: irf4 has been classified as Green List (High Evidence).
Phenotypes for gene: IRF4 were changed from combined immunodeficiency MONDO:0015131 to Immunodeficiency 131, MIM# 621097
Gene: irf4 has been classified as Green List (High Evidence).
gene: IRF4 was added gene: IRF4 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: IRF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IRF4 were set to 36662884, 36917008, 29537367, 29408330 Phenotypes for gene: IRF4 were set to combined immunodeficiency MONDO:0015131 Review for gene: IRF4 was set to GREEN gene: IRF4 was marked as current diagnostic