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1. Interleukin-2 receptor subunit
The common gamma chain, also known as interleukin-2 receptor subunit gamma or IL-2RG, is a cytokine receptor sub-unit that is common to the receptor complexes for at least six different interleukin receptors: IL-2, IL-4, IL-7, IL-9, IL-15 and interleukin-21 receptor (2). The IL-2RG proteins encoded by the IL2RG gene located on the long (q) arm of the X chromosome. A mutation in this gene is associated with X-linked severe combined immunodeficiency (X-SCID). Since this mutation is on the X chromosome, it is almost exclusively seen in males, either due to inheriting an X chromosome with this mutation from their mother who is heterozygous for the mutation, or due to a germ cell mutation on the X-chromosome. Germ cell mutations seem to be the more common cause as only 1/3 of patients are reported to have a positive family history.
What other immune defects should be tested should be tested in evaluating for x-linked severe combined immunodeficiency (X-SCID)? (Click on the correct answer to be directed to the fith of six pages)