Combined Immunodeficiency
Gene: IRF4
Seven patients with profound CID from six kindreds of diverse ethnic origins (Fig. 1A). All affected individuals suffered with early onset (<1 year of age) recurrent sinopulmonary infections, with the opportunistic pathogen Pneumocystis jirovecii causing pneumonia in most individuals. p.T95R variant found in all patients. Extensive functional data including knockout mouse model.
The heterozygous IRF4T95R variant found in multiple unrelated families caused a fully penetrant, severe very early-onset immunodeficiency characterized by greatly enhanced susceptibility to opportunistic pathogens such as P. jirovecii and weakly pathogenic mycobacteria.Created: 11 Oct 2023, 10:59 p.m. | Last Modified: 11 Oct 2023, 10:59 p.m.
Panel Version: 1.44
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Combined Immune deficiency
Publications
A single case with a homozygous splice variant inherited by uniparental isodisomy, and previously reported supporting null animal models.
Sources: OtherCreated: 1 Mar 2021, 6:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined immunodeficiency
Publications
Phenotypes for gene: IRF4 were changed from Combined immunodeficiency, MONDO:0015131, IRF4-related to Immunodeficiency 131, MIM# 621097
Phenotypes for gene: IRF4 were changed from Combined immunodeficiency to Combined immunodeficiency, MONDO:0015131, IRF4-related
Publications for gene: IRF4 were set to 29408330
Mode of inheritance for gene: IRF4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: irf4 has been classified as Green List (High Evidence).
Gene: irf4 has been classified as Amber List (Moderate Evidence).
Gene: irf4 has been classified as Amber List (Moderate Evidence).
gene: IRF4 was added gene: IRF4 was added to Combined Immunodeficiency. Sources: Other Mode of inheritance for gene: IRF4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IRF4 were set to 29408330 Phenotypes for gene: IRF4 were set to Combined immunodeficiency Review for gene: IRF4 was set to AMBER