JAK3 deficiency

Defects in JAK3 are a cause of autosomal recessive T-cell negative/B-cell positive severe combined immunodeficiency (T-B+ SCID), a condition characterized by the absence of circulating mature T-lymphocytes and NK cells, normal to elevated numbers of nonfunctional B-lymphocytes, and marked hypoplasia of lymphoid tissues.

Alternative names

Autosomal recessive T-B+ SCID due to JAK3

Janus kinase 3


  • Combined B and T cell immunodeficiencies
    • T-B+ SCID


Autosomal recessive


#600802 Severe combined immunodeficiency, autosomal recessive, T-negative/B-positive type

*600173 Janus kinase 3; JAK3

Cross references

Phenotypically related immunodeficiencies

IDR factfile for X-linked SCID(gamma-chain deficiency)


1/500,000 live births