Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease

Science. 2000 Apr 28;288(5466):669-72. doi: 10.1126/science.288.5466.669.

Abstract

Severe combined immunodeficiency-X1 (SCID-X1) is an X-linked inherited disorder characterized by an early block in T and natural killer (NK) lymphocyte differentiation. This block is caused by mutations of the gene encoding the gammac cytokine receptor subunit of interleukin-2, -4, -7, -9, and -15 receptors, which participates in the delivery of growth, survival, and differentiation signals to early lymphoid progenitors. After preclinical studies, a gene therapy trial for SCID-X1 was initiated, based on the use of complementary DNA containing a defective gammac Moloney retrovirus-derived vector and ex vivo infection of CD34+ cells. After a 10-month follow-up period, gammac transgene-expressing T and NK cells were detected in two patients. T, B, and NK cell counts and function, including antigen-specific responses, were comparable to those of age-matched controls. Thus, gene therapy was able to provide full correction of disease phenotype and, hence, clinical benefit.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antigens, CD34 / analysis
  • B-Lymphocytes / immunology
  • Gene Transfer Techniques
  • Genetic Therapy*
  • Genetic Vectors
  • Hematopoietic Stem Cell Transplantation
  • Hematopoietic Stem Cells* / cytology
  • Humans
  • Immunoglobulins / blood
  • Infant
  • Killer Cells, Natural / immunology
  • Lymphocyte Activation
  • Lymphocyte Count
  • Moloney murine leukemia virus / genetics
  • Mutation
  • Receptors, Antigen, T-Cell / analysis
  • Receptors, Interleukin / biosynthesis
  • Receptors, Interleukin / genetics*
  • Severe Combined Immunodeficiency / genetics
  • Severe Combined Immunodeficiency / therapy*
  • T-Lymphocyte Subsets / immunology
  • T-Lymphocytes / immunology
  • Transgenes

Substances

  • Antigens, CD34
  • Immunoglobulins
  • Receptors, Antigen, T-Cell
  • Receptors, Interleukin