Relative increase of T cells expressing the gamma/delta rather than the alpha/beta receptor in ataxia-telangiectasia

N Engl J Med. 1990 Jan 11;322(2):73-6. doi: 10.1056/NEJM199001113220201.

Abstract

In ataxia-telangiectasia, B-cell and T-cell deficiencies are thought to be due to a defect of rearrangements of immunoglobulin and T-cell receptor genes. T cells recognize antigens through two types of CD3-associated receptors: alpha/beta chains on mature cells and gamma/delta chains mostly on immature cells. We studied 10 patients with ataxia-telangiectasia and found that most had a relative increase of circulating T cells bearing gamma/delta receptors rather than alpha/beta receptors, as compared with normal subjects (P less than 0.001). Patients with other immune deficits, including eight with common variable immunodeficiency, one with Wiskott-Aldrich syndrome, two with hyperimmunoglobulinemia E syndrome, and one with severe combined immunodeficiency, had normal ratios of gamma/delta-bearing to alpha/beta-bearing cells. A marked predominance of gamma/delta-bearing T cells was found in a patient with a primary T-cell defect. The relative increase in gamma/delta-bearing T cells in the patients with ataxia-telangiectasia was largely accounted for by cells that reacted with the monoclonal antibody BB3, an apparently distinct subset of T cells that selectively express the C gamma 1 gene product of the T-cell receptor. Although they had normal ratios of gamma/delta-bearing to alpha/beta-bearing T cells, the patients with common variable immunodeficiency had a significant increase (P = 0.01) in the number of T cells expressing C gamma 2 that reacted with the monoclonal antibody delta-TCS-1. We conclude that the increased ratio of gamma/delta-bearing to alpha/beta-bearing T cells in ataxia-telangiectasia may reflect both a recombinational defect that interferes with T-cell and B-cell gene rearrangements and an inability to repair damage to the DNA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Antibodies, Monoclonal
  • Antigens, Differentiation, T-Lymphocyte / immunology*
  • Ataxia Telangiectasia / genetics
  • Ataxia Telangiectasia / immunology*
  • CD3 Complex
  • Child
  • Child, Preschool
  • Female
  • Gene Rearrangement, T-Lymphocyte
  • Humans
  • Hypergammaglobulinemia / immunology
  • Immunoglobulin E / analysis
  • Immunologic Deficiency Syndromes / immunology
  • Male
  • Receptors, Antigen, T-Cell / analysis*
  • Receptors, Antigen, T-Cell / immunology*
  • T-Lymphocytes / analysis
  • T-Lymphocytes / immunology*
  • Wiskott-Aldrich Syndrome / immunology

Substances

  • Antibodies, Monoclonal
  • Antigens, Differentiation, T-Lymphocyte
  • CD3 Complex
  • Receptors, Antigen, T-Cell
  • Immunoglobulin E