Gene therapy of X-linked severe combined immunodeficiency. 2002

Salima Hacein-Bey-Abina, and Alain Fischer, and Marina Cavazzana-Calvo
INSERM U 429, Gene and Cell Therapy Unit, Hĵpital Necker Enfants Malades, Paris, France. sbey@wanadoo.fr

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.

UI MeSH Term Description Entries
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000818 Animals Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA. Animal,Metazoa,Animalia
D015316 Genetic Therapy Techniques and strategies which include the use of coding sequences and other conventional or radical means to transform or modify cells for the purpose of treating or reversing disease conditions. Gene Therapy,Somatic Gene Therapy,DNA Therapy,Gene Therapy, Somatic,Genetic Therapy, Gametic,Genetic Therapy, Somatic,Therapy, DNA,Therapy, Gene,Therapy, Somatic Gene,Gametic Genetic Therapies,Gametic Genetic Therapy,Genetic Therapies,Genetic Therapies, Gametic,Genetic Therapies, Somatic,Somatic Genetic Therapies,Somatic Genetic Therapy,Therapies, Gametic Genetic,Therapies, Genetic,Therapies, Somatic Genetic,Therapy, Gametic Genetic,Therapy, Genetic,Therapy, Somatic Genetic
D016511 Severe Combined Immunodeficiency Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID). Bare Lymphocyte Syndrome,Immunodeficiency, Severe Combined,Omenn Syndrome,Immunodeficiency Syndrome, Severe Combined,Immunologic Deficiency, Severe Combined,Omenn's Syndrome,Reticuloendotheliosis, Familial,Severe Combined Immune Deficiency,Severe Combined Immunodeficiency Syndrome,Severe Combined Immunologic Deficiency,Bare Lymphocyte Syndromes,Combined Immunodeficiencies, Severe,Combined Immunodeficiency, Severe,Familial Reticuloendothelioses,Familial Reticuloendotheliosis,Immunodeficiencies, Severe Combined,Lymphocyte Syndrome, Bare,Lymphocyte Syndromes, Bare,Omenns Syndrome,Reticuloendothelioses, Familial,Severe Combined Immunodeficiencies,Syndrome, Bare Lymphocyte,Syndrome, Omenn,Syndrome, Omenn's,Syndromes, Bare Lymphocyte
D018123 Receptors, Interleukin Cell surface proteins that bind interleukins and trigger intracellular changes influencing the behavior of cells. Interleukin Receptors,Interleukin Receptor,Receptors, Interleukins,Interleukins Receptors,Receptor, Interleukin
D018380 Hematopoietic Stem Cell Transplantation Transfer of HEMATOPOIETIC STEM CELLS from BONE MARROW or BLOOD between individuals within the same species (TRANSPLANTATION, HOMOLOGOUS) or transfer within the same individual (TRANSPLANTATION, AUTOLOGOUS). Hematopoietic stem cell transplantation has been used as an alternative to BONE MARROW TRANSPLANTATION in the treatment of a variety of neoplasms. Stem Cell Transplantation, Hematopoietic,Transplantation, Hematopoietic Stem Cell
D040181 Genetic Diseases, X-Linked Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases. X-Linked Genetic Diseases,Genetic Diseases, X-Chromosome Linked,Disease, X-Linked Genetic,Diseases, X-Linked Genetic,Genetic Disease, X-Linked,Genetic Diseases, X Chromosome Linked,Genetic Diseases, X Linked,X Linked Genetic Diseases,X-Linked Genetic Disease

Related Publications

Salima Hacein-Bey-Abina, and Alain Fischer, and Marina Cavazzana-Calvo
January 2003, Methods in molecular biology (Clifton, N.J.),
Salima Hacein-Bey-Abina, and Alain Fischer, and Marina Cavazzana-Calvo
April 1997, Hematology and cell therapy,
Salima Hacein-Bey-Abina, and Alain Fischer, and Marina Cavazzana-Calvo
May 2009, Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology,
Salima Hacein-Bey-Abina, and Alain Fischer, and Marina Cavazzana-Calvo
April 1995, Journal of hematotherapy,
Salima Hacein-Bey-Abina, and Alain Fischer, and Marina Cavazzana-Calvo
November 2002, Hospital medicine (London, England : 1998),
Salima Hacein-Bey-Abina, and Alain Fischer, and Marina Cavazzana-Calvo
February 2002, Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunology,
Salima Hacein-Bey-Abina, and Alain Fischer, and Marina Cavazzana-Calvo
November 1991, Clinical immunology and immunopathology,
Salima Hacein-Bey-Abina, and Alain Fischer, and Marina Cavazzana-Calvo
April 2016, Science translational medicine,
Salima Hacein-Bey-Abina, and Alain Fischer, and Marina Cavazzana-Calvo
February 2016, Human gene therapy,
Salima Hacein-Bey-Abina, and Alain Fischer, and Marina Cavazzana-Calvo
March 2008, Molecular therapy : the journal of the American Society of Gene Therapy,
Copied contents to your clipboard!