Genomics England
GMS Panels
Panels
Genes and Entities

IRAK4

interleukin 1 receptor associated kinase 4
OMIM: 606883
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
IRAK4 deficiency, 610799, Invasive pneumococcal disease, recurrent isolated, 1, 6107, Defects of TLR/NFkappa-B signalling, Defects with susceptibility to mycobacterial infection (MSMD), Bacterial infections (pyogens), Defects in Intrinsic and Innate Immunity