Gene therapy for severe combined immune deficiency

Expert Rev Mol Med. 2004 Jul 2;6(13):1-15. doi: 10.1017/S1462399404007884.


Infants born with severe combined immune deficiencies are prone to life-threatening infections and, without treatment, do not survive beyond the first year of life. Haematopoietic stem cell transplantation from a fully matched donor offers the possibility of cure. In the absence of a suitable matched donor, haploidentical transplants from a parental donor may be undertaken, but these are associated with more complications and lower success rates. Recently, an alternative therapeutic option based on retroviral gene delivery has been used to correct X-linked severe combined immune deficiency (SCID-X1) and adenosine deaminase deficiency. Clinical trials have established that in situations where ex vivo gene transfer into haematopoietic progenitor cells confers a strong selective advantage, the procedure is a feasible alternative to haploidentical transplantation, with favourable kinetics of immune reconstitution.

Publication types

  • Evaluation Study
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adenosine Deaminase / genetics
  • Genetic Therapy / adverse effects
  • Genetic Therapy / methods*
  • Hematopoietic Stem Cell Transplantation / methods
  • Humans
  • Infant
  • Models, Biological
  • Severe Combined Immunodeficiency / genetics
  • Severe Combined Immunodeficiency / therapy*
  • X-Linked Combined Immunodeficiency Diseases / genetics
  • X-Linked Combined Immunodeficiency Diseases / therapy


  • Adenosine Deaminase