Defects of intrinsic and innate immunity
Gene: IRAK4

IRAK4 (interleukin 1 receptor associated kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000198001
EnsemblGeneIds (GRCh37): ENSG00000198001
OMIM: 606883, Gene2Phenotype
IRAK4 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Recurrent severe systemic and invasive bacterial infections beginning in infancy or early childhood. More than 10 unrelated individuals reported.
Created: 16 Mar 2022, 5:28 a.m. | Last Modified: 16 Mar 2022, 5:28 a.m.

Panel Version: 0.91

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 67, MIM# 607676

Publications

Created: 16 Mar 2022, 5:28 a.m.
Last Modified: 16 Mar 2022, 5:28 a.m.
Panel version: 0.91

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Immunodeficiency 67, MIM# 607676

OMIM

606883

Clinvar variants

Variants in IRAK4

Penetrance

None

Publications

Panels with this gene