A primary T-cell immunodeficiency associated with defective transmembrane calcium influx

Blood. 1995 Feb 15;85(4):1053-62.

Abstract

We investigated a T-cell activation deficiency in a 3-month-old boy with protracted diarrhea, serious cytomegalovirus pneumonia, and a family history (in a brother) of cytomegalovirus infection and toxoplasmosis. In spite of detection of normal number of peripheral lymphocytes, T cells did not proliferate after activation by anti-CD3 and anti-CD2 antibodies, although proliferation induced by antigens was detectable. We sought to determine the origin of this defect as it potentially represented a valuable tool to analyze T-cell physiology. T-cell activation by anti-CD3 antibody or phytohemagglutinin (PHA) led to reduced interleukin-2 (IL-2) production and abnormal nuclear factor-activated T cell (NF-AT; a complex regulating the IL-2 gene transcription) binding activity to a specific oligonucleotide. T-cell proliferation was restored by IL-2. Early events of T-cell activation, such as anti-CD3 antibody-induced cellular protein tyrosine phosphorylation, p59fyn and p56lck kinase activities, and phosphoinositide turnover, were found to be normal. In contrast, anti-CD3 antibody-induced Ca2+ flux was grossly abnormal. Release from endoplasmic reticulum stores was detectable as tested in the presence of anti-CD3 antibody or thapsigargin after cell membrane depolarization in a K+ rich medium, whereas extracellular entry of Ca2+ was defective. The latter abnormality was not secondary to defective K+ channel function, which was found to be normal. A similar defect was found in other hematopoietic cell lineages and in fibroblasts as evaluated by both cytometry and digital video imaging experiments at a single-cell level. This primary T-cell immunodeficiency appears, thus, to be due to defective Ca2+ entry through the plasma membrane. The same abnormality did not alter B-cell proliferation, platelet function, and polymorphonuclear neutrophil (PMN) function. Elucidation of the mechanism underlying this defect would help to understand the physiology of Ca2+ mobilization in T cells.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antigens, CD / blood
  • Base Sequence
  • Biological Transport
  • Calcium / metabolism*
  • Cell Membrane / metabolism
  • Cell Nucleus / metabolism
  • DNA-Binding Proteins / metabolism
  • Humans
  • Immunologic Deficiency Syndromes / blood
  • Immunologic Deficiency Syndromes / immunology*
  • Immunophenotyping
  • Infant
  • Interleukin-2 / pharmacology
  • Ionomycin / pharmacology
  • Lymphocyte Activation* / drug effects
  • Lymphocyte Specific Protein Tyrosine Kinase p56(lck)
  • Male
  • Molecular Sequence Data
  • Oligodeoxyribonucleotides / metabolism
  • Phosphatidylinositols / blood
  • Phospholipids / metabolism
  • Phosphotyrosine
  • Protein-Tyrosine Kinases / metabolism
  • Proto-Oncogene Proteins / metabolism
  • Proto-Oncogene Proteins c-fyn
  • Receptors, Antigen, T-Cell, alpha-beta / analysis
  • Reference Values
  • Substrate Specificity
  • T-Lymphocytes / immunology*
  • T-Lymphocytes / metabolism
  • Tyrosine / analogs & derivatives
  • Tyrosine / analysis

Substances

  • Antigens, CD
  • DNA-Binding Proteins
  • Interleukin-2
  • Oligodeoxyribonucleotides
  • Phosphatidylinositols
  • Phospholipids
  • Proto-Oncogene Proteins
  • Receptors, Antigen, T-Cell, alpha-beta
  • Phosphotyrosine
  • Tyrosine
  • Ionomycin
  • Protein-Tyrosine Kinases
  • FYN protein, human
  • Lymphocyte Specific Protein Tyrosine Kinase p56(lck)
  • Proto-Oncogene Proteins c-fyn
  • Calcium