Immunodeficiency, radiosensitivity, and the XCIND syndrome

Immunol Res. 2007;38(1-3):87-101. doi: 10.1007/s12026-007-0018-y.

Abstract

Through the analysis of a rare disorder called ataxia-telangiectasia (A-T), many important biological lessons have been gleaned. Today, it is clear that the underlying defect of A-T lies in the nucleus, as an inability to repair or process double strand breaks. More important, by the A-T phenotype now allows us to appreciate a much more general distinction between immunodeficiencies that are radiosensitive and those that are not.

MeSH terms

  • Ataxia Telangiectasia / genetics*
  • Chromosomes, Human, Pair 14 / genetics
  • Chromosomes, Human, Pair 7 / genetics
  • DNA Breaks, Double-Stranded*
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Neoplasms / genetics*
  • Nervous System Malformations / genetics*
  • Radiation Tolerance / genetics*
  • Syndrome
  • Translocation, Genetic