Severe Combined Immunodeficiency (absent T present B cells)
Gene: JAK3

JAK3 (Janus kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000105639
EnsemblGeneIds (GRCh37): ENSG00000105639
OMIM: 600173, Gene2Phenotype
JAK3 is in 7 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

Well-established gene-disease association with >30 individuals with bi-allelic (missense, nonsense, insertion, deletion, splice site) variants reported.

All patients presented with a T–B+NK– phenotype with recurrent infections. Clinical and laboratory hallmarks include Lymphopaenia, extremely low NK cells, thrush, intractable diarrhoea, failure to thrive and severe recurrent airway infections.

BMT at young age is considered the greatest predictor of survival, however if serious infection the chance of survival, even with BMT, declines rapidly.
Created: 30 Sep 2021, 1:02 a.m. | Last Modified: 30 Sep 2021, 1:02 a.m.

Panel Version: 0.34

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SCID, autosomal recessive, T-negative/B-positive type MIM# 600802

Publications

Created: 30 Sep 2021, 1:02 a.m.
Last Modified: 30 Sep 2021, 1:02 a.m.
Panel version: 0.34

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

SCID, autosomal recessive, T-negative/B-positive type MIM# 600802

Tags

treatable

OMIM

600173

Clinvar variants

Variants in JAK3

Penetrance

None

Publications

Panels with this gene