JAK3

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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Global janus kinase (JAK) inhibitors are drugs that inhibit the abnormal functionality of enzymes in the JAK family such as JAK1, JAK2, JAK3, and TYK2.
It is a JAK2-selective inhibitor with higher potency for JAK2 over family members JAK1, JAK3 and TYK2.
* PF-06651600 (JAK3)--In January 2019, Pfizer announced the initiation of a pivotal Phase 2b/3 clinical trial for its oral JAK3 inhibitor, PF-06651600, for the treatment of patients with moderate to severe alopecia areata, a chronic autoimmune skin disease that causes hair loss on the scalp, face, or body, and currently has no approved therapies.
These good cases are associated with JAK3 activation.
The analysis of the whole transcriptome data revealed different expression levels of several genes, such as JAK1, JAK2, JAK3, RAF, IL6R, NCAM (CD56), WHSC1, MCL1, BCL2, and IGF1, which showed myeloma pathogenesis as reported previously.
By contrast Jak1 and Jak3 are helpful in the regulation of lymphopoiesis.1,6
The phase 2 multicenter, placebo-controlled, double-blind study randomized 142 patients with chronic alopecia of at least 6 months duration and 50% or greater hair loss at baseline to an oral Janus kinase 3 (JAK3) inhibitor known for now as PF-06651600, an oral tyrosine kinase 2 (TYK2)/JAK1 inhibitor known as PF-06700841, or placebo for 24 weeks.
In addition, they noted a missense mutation of unknown significance in the Janus kinase 3 (JAK3) gene.
Next-generation sequencing (NGS) was available in seven patients using a custom-designed 49 genes' panel (Ion S5™ System, Thermo Fisher, San Diego, CA, USA), including the entire coding region of ASXL1, ASXL2, BCOR, BCORL1, BIRC3, BRAF, CALR, CBL, CDKN2A, CSF3R, CSMD1, DNMT3A, ETNK1, ETV6, EZH2, FBXW7, FLT3, GATA2, IDH1, IDH2, IL7R, JAK1, JAK2, JAK3, KIT, KRAS, MPL, MYD88, NOTCH1, NRAS, PAX5, PDGFRA, PDGFRB, PHF6, PIGA, PTEN, PTPN11, RUNX1, SETBP1, SETD2, SF3B1, SH2B3, SRSF2, STAG2, TET2, TP53, U2AF1, WT1 , and ZRSR2 , with a median depth of x2000.
Pfizer said that based on the "totality of the data and the emerging clinical profiles," the investigational JAK3 inhibitor, which was recently granted Breakthrough Therapy designation from FDA for alopecia areata, is advancing to the next phase of development for moderate to severe alopecia areata and will continue to be evaluated for rheumatoid arthritis, Crohn's disease and ulcerative colitis.
Pfizer Inc., announced its investigational oral Janus kinase 3 (JAK3) inhibitor PF-06651600 received Breakthrough Therapy designation from the U.S.