title: Hematopoietic stem cell gene therapy for adenosine deaminase deficient-SCID.
abstract: Gene therapy is a highly attractive strategy for many types of inherited disorders of the immune system. Adenosine deaminase (ADA) deficient-severe combined immunodeficiency (SCID) has been the target of several clinical trials based on the use of hematopoietic stem/progenitor cells engineered with retroviral vectors. The introduction of a low intensity conditioning regimen has been a crucial factor in achieving stable engrafment of hematopoietic stem cells and therapeutic levels of ADA-expressing cells. Recent studies have demonstrated that gene therapy for ADA-SCID has favorable safety profile and is effective in restoring normal purine metabolism and immune functions. Stem cell gene therapy combined with appropriate conditioning regimens might be extended to other genetic disorders of the hematopoietic system.
authors.affiliation: San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET) and Pediatric Immunohematology and Bone Marrow Transplant Unit, Scientific Institute HS Raffaele, Via Olgettina 58, 20132, Milan, Italy. a.aiuti@hsr.it
authors.forename: Alessandro
authors.initials: A
authors.lastname: Aiuti
authors.forename: Immacolata
authors.initials: I
authors.lastname: Brigida
authors.forename: Francesca
authors.initials: F
authors.lastname: Ferrua
authors.forename: Barbara
authors.initials: B
authors.lastname: Cappelli
authors.forename: Robert
authors.initials: R
authors.lastname: Chiesa
authors.forename: Sarah
authors.initials: S
authors.lastname: Marktel
authors.forename: Maria-Grazia
authors.initials: MG
authors.lastname: Roncarolo
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D002986:Clinical Trials as Topic; D015316:Genetic Therapy / Q000379:methods*; D005822:Genetic Vectors; D018380:Hematopoietic Stem Cell Transplantation; D006412:Hematopoietic Stem Cells / Q000201:enzymology*; D006801:Humans; D016511:Severe Combined Immunodeficiency / Q000235:genetics / Q000601:surgery / Q000628:therapy*; D013601:T-Lymphocytes / Q000201:enzymology / Q000276:immunology; D014161:Transduction, Genetic
chemical_list: D000243:Adenosine Deaminase; C051409:pegademase bovine