Combined Immunodeficiency

Gene: IRF4

Green List (high evidence)

IRF4 (interferon regulatory factor 4)
EnsemblGeneIds (GRCh38): ENSG00000137265
EnsemblGeneIds (GRCh37): ENSG00000137265
OMIM: 601900, Gene2Phenotype
IRF4 is in 3 panels

2 reviews

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

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

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single case with a homozygous splice variant inherited by uniparental isodisomy, and previously reported supporting null animal models.
Sources: Other
Created: 1 Mar 2021, 6:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined immunodeficiency

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Immunodeficiency 131, MIM# 621097
OMIM
601900
Clinvar variants
Variants in IRF4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IRF4 were changed from Combined immunodeficiency, MONDO:0015131, IRF4-related to Immunodeficiency 131, MIM# 621097

15 Oct 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IRF4 were changed from Combined immunodeficiency to Combined immunodeficiency, MONDO:0015131, IRF4-related

15 Oct 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IRF4 were set to 29408330

15 Oct 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IRF4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

15 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: irf4 has been classified as Green List (High Evidence).

1 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: irf4 has been classified as Amber List (Moderate Evidence).

1 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: irf4 has been classified as Amber List (Moderate Evidence).

1 Mar 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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