A mutation in zap-70 protein tyrosine kinase results in a selective immunodeficiency - PubMed (original) (raw)

. 1995 Nov;15(6 Suppl):52S-62S.

doi: 10.1007/BF01540894.

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A mutation in zap-70 protein tyrosine kinase results in a selective immunodeficiency

C M Roifman. J Clin Immunol. 1995 Nov.

Abstract

We have previously described a new type of selective T-cell deficiency characterized by persistent infections reminiscent of severe combined immunodeficiency. We show here that selective T-cell deficiency patients carry a mutation of zap-70 protein tyrosine kinase, resulting in a loss of the activity of this kinase. The thymus of zap-70(-1-1) patients shows the presence of CD4CD8 double-positive cells in the cortex, however, only CD4, and not CD8, single-positive cells are present in the medulla. Peripheral CD4+ T cells from the zap-70(-1-1) 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 the signal transduction and function of single-positive CD4 T cells.

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