title: An in vivo model of somatic cell gene therapy for human severe combined immunodeficiency.
abstract: Deficiency of adenosine deaminase (ADA) results in severe combined immunodeficiency (SCID), a candidate genetic disorder for somatic cell gene therapy. Peripheral blood lymphocytes from patients affected by ADA- SCID were transduced with a retroviral vector for human ADA and injected into immunodeficient mice. Long-term survival of vector-transduced human cells was demonstrated in recipient animals. Expression of vector-derived ADA restored immune functions, as indicated by the presence in reconstituted animals of human immunoglobulin and antigen-specific T cells. Retroviral vector gene transfer, therefore, is necessary and sufficient for development of specific immune functions in vivo and has therapeutic potential to correct this lethal immunodeficiency.
authors.affiliation: Laboratory of Hematology, Istituto Scientifico H.S. Raffaele, Milano, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Ferrari
authors.forename: S
authors.initials: S
authors.lastname: Rossini
authors.forename: R
authors.initials: R
authors.lastname: Giavazzi
authors.forename: D
authors.initials: D
authors.lastname: Maggioni
authors.forename: N
authors.initials: N
authors.lastname: Nobili
authors.forename: M
authors.initials: M
authors.lastname: Soldati
authors.forename: G
authors.initials: G
authors.lastname: Ungers
authors.forename: F
authors.initials: F
authors.lastname: Mavilio
authors.forename: E
authors.initials: E
authors.lastname: Gilboa
authors.forename: C
authors.initials: C
authors.lastname: Bordignon
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency* / Q000235:genetics; D000818:Animals; D001483:Base Sequence; D015316:Genetic Therapy; D005822:Genetic Vectors; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000628:therapy; D019868:Kanamycin Kinase; D017710:Lymphocyte Transfusion; D008214:Lymphocytes / Q000502:physiology; D051379:Mice; D008817:Mice, Mutant Strains; D009841:Oligonucleotides / Q000737:chemistry; D010770:Phosphotransferases / Q000235:genetics; D016133:Polymerase Chain Reaction; D012190:Retroviridae / Q000235:genetics
chemical_list: D009841:Oligonucleotides; D010770:Phosphotransferases; D019868:Kanamycin Kinase; D000243:Adenosine Deaminase