Defects of intrinsic and innate immunity
Gene: TYK2

TYK2 (tyrosine kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000105397
EnsemblGeneIds (GRCh37): ENSG00000105397
OMIM: 176941, Gene2Phenotype
TYK2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Immunodeficiency-35 is a primary immunodeficiency characterized by increased susceptibility to localized or disseminated mycobacterial infection after BCG vaccination. Some patients may have increased susceptibility to infection with other intracellular organisms and/or viral infections. Fungal infections are not observed. Laboratory studies show normal levels of immune cells but defective signaling in specific immunologic pathways. Hyper IgE is a feature. Multiple families reported.
Created: 25 Aug 2021, 12:15 a.m. | Last Modified: 25 Aug 2021, 12:15 a.m.

Panel Version: 0.77

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 35, MIM# 611521

Publications

Created: 25 Aug 2021, 12:15 a.m.
Last Modified: 25 Aug 2021, 12:15 a.m.
Panel version: 0.77

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Immunodeficiency 35, MIM# 611521

OMIM

176941

Clinvar variants

Variants in TYK2

Penetrance

None

Publications

Panels with this gene