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IL2RG gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

IL2RG gene

The IL2RG gene provides instructions for the common gamma chain protein, a vital component of receptors that regulate the development and function of the immune system's lymphocytes.

Normal Function

The IL2RG gene provides instructions for making a protein called the common gamma chain. This protein is a component of several different receptors involved in immune system function. These receptors are located on the surface of immature blood-forming cells in the bone marrow. They partner with other proteins to direct these cells to form lymphocytes—a type of white blood cell—and regulate the growth and maturation of T cells, B cells, and natural killer cells. These cells are essential for killing viruses, producing antibodies, and regulating the immune system.

Health Conditions Related to Genetic Changes

X-linked severe combined immunodeficiency

Hundreds of variants in the IL2RG gene have been identified in people with X-linked severe combined immunodeficiency (SCID). This inherited immune system disorder occurs almost exclusively in males. The variants typically lead to the production of a nonfunctional common gamma chain or prevent the protein from being produced entirely. Without this protein, chemical signals required for lymphocyte development cannot be relayed to the nucleus. The resulting lack of functional, mature lymphocytes prevents the immune system from fighting off infections.

Genomic Location

The IL2RG gene is found on the X chromosome.

Frequently Asked Questions

fter a positive newborn screen (low T‑cell receptor excision circles), a definitive diagnosis requires genetic testing. Peripheral blood or buccal swab DNA is analyzed by next‑generation sequencing panels that include IL2RG, or by Sanger sequencing if a specific family mutation is known. Deletions or splice‑site changes are also captured by copy‑number analysis.
Since IL2RG is X‑linked, carrier testing of the mother (and potentially other female relatives) is recommended. If the mother is a carrier, prenatal diagnosis via chorionic villus sampling or amniocentesis can detect the mutation. Pre‑implantation genetic testing for monogenic disorders (PGT‑M) with IVF allows selection of embryos without the pathogenic allele. Genetic counseling should address recurrence risk (50 % of sons affected, 50 % of daughters carriers).
The standard curative approach is allogeneic HSCT; survival rates exceed 80 % when a matched sibling donor is used and conditioning is minimized. Unrelated cord blood or matched unrelated donors are alternatives with slightly lower success. Gene therapy using a lentiviral vector to insert a functional IL2RG copy has shown >70 % immune reconstitution in recent trials, with low incidence of insertional oncogenesis.
The infant must be placed in a sterile environment (protective isolation) and started on broad‑spectrum antimicrobial prophylaxis (e.g., fluconazole, trimethoprim‑sulfamethoxazole). Live vaccines are contraindicated. Intravenous immunoglobulin (IVIG) is given to provide passive antibodies. Early referral for curative therapy—either hematopoietic stem cell transplantation (HSCT) from a matched sibling or gene‑corrected autologous stem cells—is essential, ideally before 3‑4 months of age.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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