Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase.

doi:10.1126/science.8202712

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Article

Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase.

Science (New York, N.Y.) - 10 Jun 1994

Elder M E, Lin D, Clever J, Chan A C, Hope T J, Weiss A, Parslow T G

Abstract excerpt

A homozygous mutation in the kinase domain of ZAP-70, a T cell receptor-associated protein tyrosine kinase, produced a distinctive form of human severe combined immunodeficiency. Manifestations of this disorder included profound immunodeficiency, absence of peripheral CD8+ T cells, and abundant peripheral CD4+ T cells that were refractory to T cell receptor-mediated activation. These findings demonstrate that...

Topics

Alleles
Amino Acid Sequence
Animals
Base Sequence
Cell Line
Cloning, Molecular
Female
Frameshift Mutation
Gene Deletion
Homozygote
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Polymerase Chain Reaction

Protein-Tyrosine Kinases

Receptors, Antigen, T-Cell

Severe Combined Immunodeficiency

Source

Open in PubMed

Identifiers

PMID: 8202712
DOI: 10.1126/science.8202712

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8202712-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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