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 ?
We used ZFNs to promote insertion of a corrective DNA sequence into the IL2RG gene in HSCs derived from either cord blood or bone marrow.
The study, which included testing the proposed gene correction strategy in vitro in HSCs derived from the bone marrow of a symptomatic four-month-old SCID-X1 patient, demonstrated the functional reconstitution of the IL2RG gene in the lymphoid progeny of corrected HSCs in vivo.