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Somatic Reversion of a Novel IL2RG Mutation Resulting in Atypical X-Linked Combined Immunodeficiency.

Genes - 23 Dec 2021

Hou Yujuan, Gratz Hans Peter, Ureña-Bailén Guillermo, Gratz Paul G, Schilbach-Stückle Karin, Renno Tina, Güngör Derya, Mader Daniel A, Malenke Elke, Antony Justin S, Handgretinger Rupert, Mezger Markus

Abstract excerpt

Mutations of the IL2RG gene, which encodes for the interleukin-2 receptor common gamma chain (γC, CD132), can lead to X-linked severe combined immunodeficiency (X-SCID) associated with a T-B+NK- phenotype as a result of dysfunctional γC-JAK3-STAT5 signaling. Lately, hypomorphic mutations of the IL2RG gene have been described causing atypical SCID with a milder phenotype. Here, we report three brothers with...

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Identifiers

PMID: 35052377
DOI: 10.3390/genes13010035
PMCID: PMC8774591

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Somatic Reversion of a Novel IL2RG Mutation Resulting in Atypical X-Linked Combined Immunodeficiency.PMID 35052377Read ↗

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