Human severe combined immune deficiency and DNA repair

Bioessays. 2003 Nov;25(11):1061-70. doi: 10.1002/bies.10344.

Abstract

Human severe combined immune deficiency (SCID) is the most serious inherited immunological deficit. Recent work has revealed defects in the predominant pathway for double-strand break repair called nonhomologous DNA end joining, or NHEJ. Progress in the biochemistry and genetics of NHEJ and of human SCID has proven to be synergistic between these two fields in a manner that covers the range from biochemical etiology to considerations about possible gene therapy for the B- SCID patients.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • B-Lymphocytes / immunology
  • B-Lymphocytes / metabolism
  • DNA / genetics
  • DNA / metabolism
  • DNA Ligase ATP
  • DNA Ligases / genetics
  • DNA Ligases / metabolism
  • DNA Repair*
  • DNA-Binding Proteins
  • Endonucleases
  • Humans
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism
  • Recombination, Genetic
  • Severe Combined Immunodeficiency / genetics*
  • Severe Combined Immunodeficiency / immunology

Substances

  • DNA-Binding Proteins
  • Nuclear Proteins
  • DNA
  • DCLRE1C protein, human
  • Endonucleases
  • DNA Ligases
  • DNA Ligase ATP