Gene therapy of X-linked severe combined immunodeficiency

Int J Hematol. 2002 Nov;76(4):295-8. doi: 10.1007/BF02982686.

Abstract

Severe combined immunodeficiency (SCID) conditions appear to be the best possible candidates for a gene therapy approach. Transgene expression by lymphocyte precursors should confer to these cells a selective growth advantage that gives rise to long-lived T-lymphocytes. This rationale was used as a basis for a clinical trial of the SCID-X1 disorder caused by common gamma (gamma c) gene mutations. This trial consists of ex vivo retroviral-mediated (MFG-B2 gamma c vector) gammac gene transfer into marrow CD34+ cells in CH-296 fibronectin fragment-coated bags. Up to now, 9 patients with typical SCID-X1 diagnosed within the first year of life and lacking an HLA-identical donor have been enrolled. More than 2 years' assessment of 5 patients and more than 1 year for 7 patients provide evidence for full development of functional, mature T-cells in the absence of any adverse effects. Functional transduced natural killer cells are also detectable, although in low numbers. All but 1 patient with T-cell immunity have also developed immunoglobulin production, which has alleviated the need for intravenous immunoglobulin substitution despite a low detection frequency of transduced B-cells. These 8 patients are doing well and living in a normal environment. This yet successful gene therapy demonstrates that in a setting where transgene expression provides a selective advantage, a clinical benefit can be expected.

Publication types

  • Review

MeSH terms

  • Animals
  • Genetic Diseases, X-Linked / therapy
  • Genetic Therapy / methods*
  • Hematopoietic Stem Cell Transplantation
  • Humans
  • Receptors, Interleukin / genetics
  • Severe Combined Immunodeficiency / therapy*

Substances

  • Receptors, Interleukin