An autosomal-recessive form of severe combined immunodeficiency can be caused by a deficiency in:

Question

Quizplus · Accepted Answer

JAK3 deficiency has been identified as a cause of autosomal-recessive severe combined immunodeficiency. JAK3 is required for signaling by a number of cytokines that promote T-cell development and function, and its deficiency results in a severe deficiency of circulating CD4+ T cells. Deficiencies in the other listed kinases, Bruton's tyrosine kinase, mevalonate kinase, and ataxia-telangiectasia kinase, can cause primary immunodeficiencies, but not the specific form of severe combined immunodeficiency mentioned in the question.

An Autosomal-Recessive Form of Severe Combined Immunodeficiency Can Be Caused