Phenotypic features of selective T cell deficiency characterized by absence of CD8+ T lymphocytes and undetectable mRNA for ZAP-70 kinase

Clin Immunol Immunopathol. 1997 Aug;84(2):129-38. doi: 10.1006/clin.1997.4365.

Abstract

Selective T cell deficiency is a rare immune deficiency characterized by the absence of CD8+ T lymphocytes and depressed/absent T cell function. This syndrome has been associated with mutations in the gene for ZAP-70, a tyrosine kinase that has profound effects on signaling via the T cell receptor. In this paper we describe a patient with selective T cell deficiency and certain phenotypic features that are unique among the small number of patients described. The patient had virtually absent T cell function, hypogammaglobulinemia, and no response to vaccination. The T lymphocytes failed to respond to mitogenic stimuli, even in the presence of exogenous interleukin 2. Similar to other patients with this disorder, the T cells were capable of proliferating when stimulated by pharmacologic agents such as phorbol ester and ionomycin. While peripheral blood T cells had limited capability to increase cytosolic Ca2+ levels in response to mitogenic stimulation, thymocytes responded to a large panel of antibodies and mitogens. This report broadens the spectrum of clinical presentations associated with selective T cell deficiency and, for the first time, compares the responses of both peripheral T cells and thymocytes. The data support the concept that the defect in signal transduction resulting from the absence of ZAP-70 is primarily manifested following export of T lymphocytes from the thymus and that selection of CDS-positive T cells is dependent on the presence of ZAP-70.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • CD8-Positive T-Lymphocytes / cytology*
  • Calcium / analysis
  • Flow Cytometry
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Infant
  • Ionomycin / pharmacology
  • Lymphocyte Activation / physiology
  • Lymphocyte Count
  • Male
  • Phenotype
  • Protein-Tyrosine Kinases / genetics*
  • RNA, Messenger / metabolism
  • Receptors, Antigen, T-Cell / genetics
  • Signal Transduction / drug effects
  • T-Lymphocyte Subsets / chemistry
  • T-Lymphocyte Subsets / cytology
  • T-Lymphocytes / immunology
  • T-Lymphocytes / physiology
  • ZAP-70 Protein-Tyrosine Kinase

Substances

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