The common gamma chain (γ c) (or CD132), 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, [5] IL-7, [6] IL-9, IL-15 [7] and interleukin-21 receptor.

Hundreds of variants (also known as mutations) in the IL2RG gene have been identified in people with X-linked severe combined immunodeficiency (SCID). This condition is an inherited disorder of the immune system that occurs almost exclusively in males.

2024年12月25日 · IL2RG (Interleukin 2 Receptor Subunit Gamma) is a Protein Coding gene. Diseases associated with IL2RG include Severe Combined Immunodeficiency, X-Linked and Combined Immunodeficiency, X-Linked. Among its related pathways are IL-9 Signaling Pathways and Interleukin-2 family signaling.

Data indicate a nonsense mutation in exon 8 (p.R328X) of interleukin (IL)-2 receptor common gamma chain gene (IL2RG)in two brothers were diagnosed with X-Linked combined Immunodeficiency (X-SCID). High IL2RG expression is associated with peripheral Tcell lymphoma expressing the ITKSYK fusion gene.

2016年5月19日 · This finding provides evidence that different genetic mutations in the IL2RG can lead to variable SCID phenotypes. In this study, we sought to further the knowledge of specific mutations in the IL2RG, through a description of 3 novel mutations in the IL2RG gene and the associated phenotype.

2018年8月8日 · These basic mechanistic studies have led to the therapeutic ability to manipulate the action of IL-2 on regulatory T (T reg) cells for the treatment of autoimmune disease and on CD8 + T cells...

Atypical X-linked severe combined immunodeficiency (X-SCID) is a variant of cellular immunodeficiency due to hypomorphic mutations in the interleukin 2 receptor gamma (IL2RG) gene. Due to a leaky clinical phenotype, diagnosis and appropriate ...

2025年2月8日 · Clinical resource with information about IL2RG, Combined immunodeficiency, X-linked, X-linked severe combined immunodeficiency, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

X-linked severe combined immunodeficiency (X-SCID) is caused by mutations of IL2RG, the gene encoding the interleukin common gamma chain (IL-2Rγ or γc) of cytokine receptors for interleukin (IL)-2, IL-4, IL-7, IL-9, IL-15, and IL-21.

The newly identified IL2RG gene variant in this study, c.420A>T (p.R140S), offers crucial insights for a comprehensive understanding of both primary combined immunodeficiency (CID) and X-linked combined immunodeficiency (X-CID), aiding in differential diagnosis.