JAK3 deficiency

JAK3 is a member of the Janus family kinases (JAK), which include JAK1, JAK2, JAK3 and Tyk2. These kinases are known to play important roles in the signal transduction via cytokine receptors, and transmit signals by binding to STAT (signal transducers and activators of transduction) family proteins. Of the JAK family kinases, JAK3 is the only kinase whose expression is limited to hematopoietic cells and is associated with yc. In addition, mutations of 7c in the position that associates with JAK3 have been identified in patients with X-SCID. These observations suggested the possibility that AR-SCID might be caused by a defect of JAK3. This hypothesis was confirmed when female SCID patients were found to have mutations in both JAK3 alleles. The phenotypes of immunodeficiency observed in these patients are similar to those observed in X-SCID. B cells arc present in normal or elevated numbers, while T cells

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