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Article

IL2RG-related immunodeficiencies: from SCID to atypical presentations.

Frontiers in immunology - 1 Jan 2026

Briassouli Efrossini, Marinakis Nikolaos, Spoulou Vana, Notarangelo Luigi D

Abstract excerpt

Background and significance: The interleukin-2 receptor gamma chain gene (IL2RG) encodes for the common γ chain (γc) protein, that is a shared signaling component of multiple interleukin receptors, including IL-2, IL-4, IL-7, IL-9, IL-15, and IL-21, and plays a pivotal role in lymphocyte development, homeostasis, and function. Mutations in IL2RG cause X-linked severe combined immunodeficiency (X-SCID) and a broad...

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Source

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Identifiers

PMID: 41909668
DOI: 10.3389/fimmu.2026.1703097
PMCID: PMC13021486

Genes

IL2RG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 17 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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IL2RG-related immunodeficiencies: from SCID to atypical presentations.PMID 41909668Read ↗

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A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype.Semantic proximity Read ↗

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