Decreased immunoglobulin class switching in Nijmegen Breakage syndrome due to the DNA repair defect

Hum Immunol. 2001 Dec;62(12):1324-7. doi: 10.1016/s0198-8859(01)00345-7.

Abstract

Nijmegen breakage syndrome (NBS) is a rare chromosomal-instability syndrome associated with defective DNA repair. Approximately 90% of NBS patients are homozygous for a truncating mutation of the NBS1 gene. As development of the immune system relies on recombination, which involves repair of DNA breaks, one might predict that mutations in the NBS1 gene could cause immunodeficiency. We immunologically investigated the world's largest series of NBS patients (n = 74), confirmed immunodeficiency, and found a discrepancy between relatively normal IgM concentrations, and decreased IgG and IgA concentrations. In addition, a significant relation between low IgA and low IgG levels was found. These data are compatible with a defective class switching in NBS and can be explained by a role of the NBS1 protein in DNA repair, signal transduction, cell cycle regulation or apoptosis.

Publication types

  • Comparative Study

MeSH terms

  • Age Factors
  • CD4-Positive T-Lymphocytes / immunology
  • Cell Cycle Proteins / physiology*
  • Chromosome Disorders / genetics*
  • Chromosome Disorders / immunology
  • DNA Repair / genetics*
  • DNA Repair / immunology
  • Humans
  • IgA Deficiency / immunology
  • IgG Deficiency / immunology
  • Immunoglobulin Class Switching / genetics*
  • Immunoglobulin Class Switching / immunology
  • Immunologic Deficiency Syndromes / immunology*
  • Nuclear Proteins / adverse effects*
  • Nuclear Proteins / genetics*
  • Syndrome

Substances

  • Cell Cycle Proteins
  • NBN protein, human
  • Nuclear Proteins