IL2RG


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IL2RG

A gene on chromosome Xq13.1 that encodes the gamma subunit of interleukin-2 (IL-2) receptor, which forms a heterotrimer with alpha and gamma subunits resulting in a high-affinity IL-2 receptor. The gamma chain is an important signalling component of many IL receptors, including those of IL-2, IL-4, IL-7 and IL-21, and is thus referred to as the common gamma chain.

Molecular pathology
Defects in IL2RG cause X-linked severe combined immunodeficiency (XSCID), as well as the less severe X-linked combined immunodeficiency (XCID).
References in periodicals archive ?
However, recently, the occurrence of T-cell leukemia in two of 10 children administered gene therapy for IL2RG SCID (mutant gamma-chain IL-2 receptor) has prompted a halt to all gene therapy using retroviral vectors for immunodeficiency.
Immune reconstitution using gene therapy in clinical trials has also been achieved for forms of SCID (14,17,18,20,52); however, as discussed previously, the unexpected complication of T-cell leukemia occurred among 2 of 10 children receiving therapy for IL2RG SCID (53-55).
but B cells can be present X-linked SCID IL2RG Xq13.