Which clinical history findings are characteristic of JAK3 deficiency?

Updated: Aug 11, 2020
  • Author: Francisco J Hernandez-Ilizaliturri, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

JAK3 is an intracellular enzyme that is activated as a result of the binding of cytokines with their cognate receptors. The gene encoding JAK3 is located on band 19p13, and the disorder is autosomal recessive. The phenotype is T–B+NK–.

The symptoms of this condition are similar to those observed in persons with XSCID and include upper and lower respiratory tract infections, persistent infections with opportunistic microorganisms, and increased susceptibility to GVHD.


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