RGD Reference Report - Defective T cell receptor signaling and CD8+ thymic selection in humans lacking zap-70 kinase. - Rat Genome Database

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Defective T cell receptor signaling and CD8+ thymic selection in humans lacking zap-70 kinase.

Authors: Arpaia, E  Shahar, M  Dadi, H  Cohen, A  Roifman, CM 
Citation: Arpaia E, etal., Cell. 1994 Mar 11;76(5):947-58.
RGD ID: 1599880
Pubmed: PMID:8124727   (View Abstract at PubMed)

We have previously described a type of selective T cell deficiency (STD) characterized by persistent infections reminiscent of severe combined immunodeficiency. We show here that STD patients carry a mutation of zap-70, resulting in loss of the activity of this kinase. The thymi of zap-70-/- patients show the presence of CD4+CD8+ cells in the cortex; however, only CD4, not CD8, single-positive cells are present in the medulla. Peripheral CD4+ T cells from the zap-70-/- patients exhibit markedly reduced tyrosine phosphorylation, fail to produce interleukin-2, and do not proliferate in response to T cell receptor stimulation by mitogens or antigens. Thus, Zap-70 kinase appears to be indispensable for the development of CD8 single-positive T cells as well as for signal transduction and function of single-positive CD4 T cells.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
severe combined immunodeficiency  IAGP 1599880selective T-cell defect and OMIM:176947RGD 
severe combined immunodeficiency  ISOZAP70 (Homo sapiens)1599880; 1599880selective T-cell defect and OMIM:176947RGD 

Objects Annotated

Genes (Rattus norvegicus)
Zap70  (zeta chain of T cell receptor associated protein kinase 70)

Genes (Mus musculus)
Zap70  (zeta-chain (TCR) associated protein kinase)

Genes (Homo sapiens)
ZAP70  (zeta chain of T cell receptor associated protein kinase 70)


Additional Information