Publication Date:
1994-06-10
Description:
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 ZAP-70 is essential for human T cell function and suggest that CD4+ and CD8+ T cells depend on different intracellular signaling pathways to support their development or survival.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Elder, M E -- Lin, D -- Clever, J -- Chan, A C -- Hope, T J -- Weiss, A -- Parslow, T G -- AI29313/AI/NIAID NIH HHS/ -- GM43574/GM/NIGMS NIH HHS/ -- RR01271/RR/NCRR NIH HHS/ -- etc. -- New York, N.Y. -- Science. 1994 Jun 10;264(5165):1596-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Pediatrics, University of California, San Francisco 94143-0110.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/8202712" target="_blank"〉PubMed〈/a〉
Keywords:
Alleles
;
Amino Acid Sequence
;
Animals
;
Base Sequence
;
Cell Line
;
Cloning, Molecular
;
Female
;
Frameshift Mutation
;
Gene Deletion
;
Homozygote
;
Humans
;
Infant
;
Male
;
Molecular Sequence Data
;
Polymerase Chain Reaction
;
Protein-Tyrosine Kinases/*genetics/metabolism
;
Receptors, Antigen, T-Cell/*metabolism
;
Severe Combined Immunodeficiency/*genetics/immunology
;
Signal Transduction
;
T-Lymphocyte Subsets/*immunology
;
Transfection
;
Tumor Cells, Cultured
;
ZAP-70 Protein-Tyrosine Kinase
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
