JAK3

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JAK3

A gene on chromosome 19p13.1 that encodes a member of the Janus kinase (JAK) family of tyrosine kinases, which are involved in cytokine-receptor-mediated intracellular signal transduction. JAK3 is primarily expressed in immune cells and transduces a signal in response to activation via tyrosine phosphorylation by interleukin receptors.

Molecular pathology
JAK3 mutations are linked to autosomal severe combined immunodeficiency disease (SCID).
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References in periodicals archive ?
Here we report a 23-year-old female patient with AU successfully treated with tofacitinib, a selective JAK-3 inhibitor.
Tofacitinib is the first JAK-3 inhibitor investigated in human trials that is approved by the US Food and Drug Administration for the treatment of rheumatoid arthritis (4).
Tofacitinib is a targeted kinase inhibitor that selectively inhibits JAK-3, thus blocking y chain receptors.