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Article

IL2RGbase: a database of gamma c-chain defects causing human X-SCID.

Immunology today - 1 Nov 1996

Puck J M

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Share to Databases, Factual
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Share to Receptors, Interleukin-2
Share to Severe Combined Immunodeficiency

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 8961626
DOI: 10.1016/0167-5699(96)30062-5

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.

Related research

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

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IL2RGbase: a database of gamma c-chain defects causing human X-SCID.PMID 8961626Read ↗

IL2RG-related immunodeficiencies: from SCID to atypical presentations.Semantic proximity Read ↗

Computational Analysis Revealed Five Novel Mutations in Human <i>IL2RG</i> gene Related to X-SCIDSemantic proximity Read ↗

A New IL-2RG Gene Mutation in an X-linked SCID Identified through TREC/KREC Screening: a Case Report.Semantic proximity Read ↗

Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.Semantic proximity Read ↗

T+ NK+ IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency.Semantic proximity Read ↗

Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3.Semantic proximity Read ↗

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

The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in<i>ADA</i>,<i>DCLRE1C</i>,<i>IL2RG</i>,<i>IL7R</i>,<i>JAK3</i>,<i>RAG1</i>, and<i>RAG2</i>Semantic proximity Read ↗

Partial T cell defects and expanded CD56bright NK cells in an SCID patient carrying hypomorphic mutation in the IL2RG gene.Semantic proximity Read ↗

Update on hereditary C1q deficiency: pathophysiology, clinical presentation, genotype and management.Semantic proximity Read ↗

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

X-CGDbase: a database of X-CGD-causing mutations.Semantic proximity Read ↗

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