JAK3-deficient severe combined immunodeficiency


JAK3-SCID is an autosomal recessive immunodeficiency characterised by a lack of circulating T cells. Affected individuals can be diagnosed on the basis of an abnormality or deficiency of the Janus 3 kinase protein (JAK3). The JAK3 gene has 24 exons (23 coding) and family specific mutations are found throughout the gene.

Also known as

JAK3-SCID, Janus kinase-3, autosomal recessive T cell-negative (T-) B cell-positive (B+) natural killer cell-negative (NK-) severe combined immunodeficiency (SCID)

Request a test

When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.

Additional information

The guidelines for the NCG service for immunodeficiencies apply to the molecular analysis of JAK3-SCID (details on request). Affected patients should be referred to the Molecular Immunology laboratory at GOSH for JAK3 protein analysis. This requires prior arrangement and completion of specific request forms (contact Dr Kimberly Gilmour in Molecular Immunology, GOSH � Tel: +44 (0) 20 7829 8835, Email: Kimberly.Gilmour@gosh.nhs.uk). We work closely with this department and will undertake mutation screening in appropriate patients.

Sending address

Rare & Inherited Disease Laboratory
London North Genomic Laboratory Hub
Great Ormond Street Hospital for Children
Levels 4-6 Barclay House
37 Queen Square

Laboratory service


Sample requirements

1ml EDTA neonates, 5ml EDTA adults

Reference range

Not applicable

Turnaround time

40 days

Disease / group



Upon request

Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible.


The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services.

© 2011 Great Ormond Street Hospital for Children NHS Trust