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.

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.

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.

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.

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.

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.

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 ...

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.

2025年1月4日 · Title: Case Report: A Novel IL2RG Frame-Restoring Rescue Mutation Mimics Early T Cell Engraftment Following Haploidentical Hematopoietic Stem Cell Transplantation in a Patient With X-SCID. Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3.

Genetic analysis of peripheral blood cells in the patient showed a dual signal, with the wildtype IL2RG gene in T cells and a mutant IL2RG gene in B cells, NK cells, and granulocytes. The findings were consistent with reversion of the L151P mutation within a …