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Article

Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.

American journal of human genetics - 1 Sept 1995

Pepper A E, Buckley R H, Small T N, Puck J M

Abstract excerpt

Human severe combined immunodeficiency (SCID), a syndrome of profoundly impaired cellular and humoral immunity, is most commonly caused by mutations in the X-linked gene for interleukin-2 (IL-2) receptor gamma chain (IL2RG). For mutational analysis of IL2RG in males with SCID, SSCP screening was...

Topics

Amino Acid Sequence
Base Sequence
Chromosome Mapping
Genetic Linkage
Genotype
Haplotypes
Humans
Male
Molecular Sequence Data
Mutation
Phenotype
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Single-Stranded Conformational

Receptors, Interleukin-2

Severe Combined Immunodeficiency

X Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 7668284
PMCID: PMC1801277

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7668284-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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