Impaired TCR signal transduction, but normal antigen presentation, in a patient with common variable immunodeficiency

Br J Haematol. 1994 Nov;88(3):520-6. doi: 10.1111/j.1365-2141.1994.tb05068.x.

Abstract

We describe a 27-year-old white man with common variable immunodeficiency (CVID) who has two healthy histoidentical brothers and one IgA-deficient sister who shares one HLA haplotype with the patient. T cells from the patient with CVID showed an impaired response to recall antigens (tetanus toxoid, E. coli), whereas his IgA-deficient sister and his two healthy histoidentical brothers responded normally. Cross-mixing experiments using isolated monocytes and T cells from the CVID patient and one histoidentical brother revealed that the patient's monocytes were fully functional in processing and presenting antigen to resting T cells of his brother, and provided normal accessory cell function for superantigen-induced activation of his brother's resting T cells. In contrast, the patient's T cells were unable to respond to antigen presented by the brother's monocytes and failed to respond with an increase in intracellular free Ca++ to stimulation with superantigen, which is known to bind to the TCR V beta-chain outside the antigen-binding groove. However, stimulation with a combination of PMA and IM, directly activating protein kinase C and increasing intracellular free Ca++ by bypassing membrane receptors, induced normal Ca++ flux. These data indicate that the patient with CVID has a defect in TCR-mediated signalling at the level of the T cells which is not present in his histoidentical healthy brothers or in his haploidentical IgA-deficient sister.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Antigen Presentation*
  • Calcium / metabolism
  • Cell Division
  • Common Variable Immunodeficiency / genetics
  • Common Variable Immunodeficiency / immunology*
  • Escherichia coli / immunology
  • Female
  • Humans
  • Immunoglobulin A / biosynthesis
  • Immunoglobulin G / biosynthesis
  • Immunoglobulin M / biosynthesis
  • Lymphocyte Activation
  • Lymphocyte Subsets / immunology
  • Male
  • Receptors, Antigen, T-Cell / immunology*
  • Signal Transduction
  • Superantigens / immunology
  • T-Lymphocytes / immunology
  • T-Lymphocytes / metabolism*
  • Tetanus Toxoid / immunology

Substances

  • Immunoglobulin A
  • Immunoglobulin G
  • Immunoglobulin M
  • Receptors, Antigen, T-Cell
  • Superantigens
  • Tetanus Toxoid
  • Calcium