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Article

A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency.

Journal of human genetics - 1 Jan 2006

Kellermayer Richard, Hsu Amy P, Stankovics József, Balogh Péter, Hadzsiev Kinga, Vojcek Ágnes, Maródi László, Kajtár Pál, Kosztolányi György, Puck Jennifer M

Abstract excerpt

Severe combined immunodeficiency (SCID) represents a genetically heterogeneous group of primary immunodeficiency disorders. Irrespective of the genetic defect, patients with SCID may be engrafted with transplacentally derived maternal T-lymphocytes that in a subset of cases may be responsive to phytohemagglutinin. Here, we present, from a genetic perspective, an SCID patient who not only harbored a novel mutation...

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Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Interleukin Receptor Common gamma Subunit

Share to Receptors, Interleukin

Share to Sequence Analysis, DNA

Share to Severe Combined Immunodeficiency

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Source

Identifiers

PMID: 16601912
DOI: 10.1007/s10038-006-0386-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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