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PMID: 8202713 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency.

Science (New York, N.Y.) ·Vol. 264 ·No. 5165 ·1994-06-10 ·Pages 1599-601

Chan AC, Kadlecek TA, Elder ME, Filipovich AH, Kuo WL, Iwashima M, Parslow TG, Weiss A

Abstract

Protein tyrosine kinases (PTKs) play an integral role in T cell activation and differentiation. Defects in the Src-family PTKs in mice and in T cell lines have resulted in variable defects in thymic development and in T cell antigen receptor (TCR) signal transduction. Here, three siblings are described with an autosomal recessive form of severe combined immunodeficiency disease (SCID) in which ZAP-70, a non-Src PTK, is absent as a result of mutations in the ZAP-70 gene. This absence is associated with defects in TCR signal transduction, suggesting an important functional role for ZAP-70.

MeSH Terms

Amino Acid Sequence Animals Base Sequence Calcium/metabolism Cell Line Child Female Gene Deletion Genes, Recessive Humans Lymphocyte Activation Male Molecular Sequence Data Mutation Point Mutation Protein-Tyrosine Kinases/deficiency,genetics,metabolism Receptors, Antigen, T-Cell/metabolism Severe Combined Immunodeficiency/genetics,immunology Signal Transduction T-Lymphocyte Subsets/immunology ZAP-70 Protein-Tyrosine Kinase

Chemicals

Receptors, Antigen, T-Cell Protein-Tyrosine Kinases ZAP-70 Protein-Tyrosine Kinase ZAP70 protein, human Calcium

Authors & Affiliations

8 authors, click to expand affiliations / ORCID

Chan A C

Howard Hughes Medical Institute, Department of Medicine, University of California, San Francisco 94143.

Kadlecek T A

Elder M E

Filipovich A H

Kuo W L

Iwashima M

Parslow T G

Weiss A

Article Info

Journal

Science (New York, N.Y.)

Abbr.

Science

ISSN

0036-8075

DOI

10.1126/science.8202713

Published

1994-06-10

Pages

1599-601

Language

English

Region

United States

NLM ID

0404511

Subset

Grants

NIAMS NIH HHS · AR-20684 · United States

NIGMS NIH HHS · GM39553 · United States

Databases

GENBANK

S69912

External Links

PubMed source DOI: 10.1126/science.8202713 View journal details

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ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency.

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