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).

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References in periodicals archive

Then, an engineered lentivirus that cannot cause illness is used as a carrier, or "vector," to deliver the normal IL2RG gene to the cells.

Gene Therapy Restores Immunity in Infants

Jude researchers have re-engineered a lentivirus to function as a vector to ferry a normal copy of IL2RG into the patients' hematopoietic stem cells.

Gene Therapy Developed at St. Jude Children's Research Hospital is Safe and Effective for Babies with X-linked Severe Combined Immunodeficiency Disorder

It is caused by mutations to the IL2RG gene, which primarily instructs the body in making protein cells needed for a healthy immune system.

Stem-cell gene therapy safe treatment for youths with immunodeficiency

In other cases up to three consecutive 3'sss are silenced: in the Human IL2RG transcript variant X2 (XM_005262262) 3'sss ATCTAG, CTCTAG, and CTCCAG are all silenced, with loss of exons 2, 3, and 4, while exons 5, 6, 7, and 8 are transcribed as in the canonical form (NM_000206) without alteration of the reading frame.

Conservation/mutation in the splice sites of cytokine receptor genes of mouse and human

X-linked SCID results from a mutation in the interleukin 2 receptor gamma (IL2RG) gene that produces the common gamma chain subunit, a component of multiple IL receptors.

Applying public health strategies to primary immunodeficiency diseases: a potential approach to genetic disorders

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