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Article

IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype.

Journal of clinical immunology - 1 Jul 2015

Hsu Amy P, Pittaluga Stefania, Martinez Bianca, Rump Amy P, Raffeld Mark, Uzel Gulbu, Puck Jennifer M, Freeman Alexandra F, Holland Steven M

Abstract excerpt

Severe combined immunodeficiency (SCID) is most frequently caused by mutations in the cytokine receptor common gamma chain, CD132, encoded by the X-linked gene, IL2RG. Most patients present in the first year of life with failure to thrive, severe, opportunistic infections and absence of CD3+ T cells. We present a patient with pediatric illness and a diagnosis of combined variable immune deficiency (CVID) who was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26076747
DOI: 10.1007/s10875-015-0174-0
PMCID: PMC4504777

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype.PMID 26076747Read ↗

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