Gene therapy in primary immunodeficiencies

References

• Fischer A. Human primary immunodeficiency diseases: a perspective. Nature Immunol. 5(1), 23–30 (2004).
   PubMed Web of Science ®Google Scholar
• Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Ann. Rev. Immunol. 22, 625–655 (2004).
   PubMed Web of Science ®Google Scholar
• Buckley RH, Schiff SE, Schiff RI et al. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N. Engl. J. Med. 340(7), 508–516 (1999).
   PubMed Web of Science ®Google Scholar
• Antoine C, Muller S, Cant A et al. Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968–99. Lancet 361(9357), 553–560 (2003).
   Google Scholar
• Hirschhorn R. In vivo reversion to normal of inherited mutations in humans. J. Med. Genet. 40(10), 721–728 (2003).
   PubMed Web of Science ®Google Scholar
• Bhatia M, Bonnet D, Wu D et al. Bone morphogenetic proteins regulate the developmental program of human hematopoietic stem cells. J. Exp. Med. 189(7), 1139–1148 (1999).
   PubMed Web of Science ®Google Scholar
• Sorrentino BP. Clinical strategies for expansion of haematopoietic stem cells. Nature Rev. Immunol. 4(11), 878–888 (2004).
   PubMed Web of Science ®Google Scholar
• Case SS, Price MA, Jordan CT et al. Stable transduction of quiescent CD34+CD38- human hematopoietic cells by HIV-1-based lentiviral vectors. Proc. Natl Acad. Sci. USA 96(6), 2988–2993 (1999).
   PubMed Web of Science ®Google Scholar
• Ailles L, Schmidt M, Santoni de Sio FR et al. Molecular evidence of lentiviral vector-mediated gene transfer into human self-renewing, multi-potent, long-term NOD/SCID repopulating hematopoietic cells. Mol. Ther. 6(5), 615–626 (2002).
   PubMed Web of Science ®Google Scholar
• Demaison C, Parsley K, Brouns G et al. High-level transduction and gene expression in hematopoietic repopulating cells using a human immunodeficiency (correction of immunodeficiency) virus Type 1-based lentiviral vector containing an internal spleen focus forming virus promoter. Hum. Gene Ther. 13(7), 803–813 (2002).
   PubMedGoogle Scholar
• Piacibello W, Bruno S, Sanavio F et al. Lentiviral gene transfer and ex vivo expansion of human primitive stem cells capable of primary, secondary, and tertiary multilineage repopulation in NOD/SCID mice. Nonobese diabetic/severe combined immunodeficient. Blood 100(13), 4391–4400 (2002).
   PubMed Web of Science ®Google Scholar
• Vassilopoulos G, Trobridge G, Josephson NC, Russell DW. Gene transfer into murine hematopoietic stem cells with helper-free foamy virus vectors. Blood 98(3), 604–609 (2001).
   PubMed Web of Science ®Google Scholar
• Josephson NC, Vassilopoulos G, Trobridge GD et al. Transduction of human NOD/SCID-repopulating cells with both lymphoid and myeloid potential by foamy virus vectors. Proc. Natl Acad. Sci. USA 99(12), 8295–8300 (2002).
   PubMed Web of Science ®Google Scholar
• Cavazzana-Calvo M, Hacein-Bey S, de Saint BG et al. Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science 288(5466), 669–672 (2000).
   Google Scholar
• Hacein-Bey-Abina S, Le Deist F, Carlier F et al. Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N. Engl. J. Med. 346(16), 1185–1193 (2002).
   PubMed Web of Science ®Google Scholar
• Gaspar HB, Parsley KL, Howe S et al. Gene therapy of X-linked severe combined immunodeficiency using a pseudotyped gammaretroviral vector. Lancet 364, 2181–2187 (2004).
   PubMed Web of Science ®Google Scholar
• Schmidt M, Hacein-Bey-Abina S, Wissler M et al. Clonal evidence for the transduction of CD34+ cells with lymphomyeloid differentiation potential and self-renewal capacity in the SCID-X1 gene therapy trial. Blood 105(7), 2699–2706 (2005).
   PubMed Web of Science ®Google Scholar
• Myers LA, Patel DD, Puck JM, Buckley RH. Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood 99(3), 872–878 (2002).
   PubMed Web of Science ®Google Scholar
• Thrasher AJ, Hacein-Bey-Abina S, Gaspar HB et al. Failure of SCID-X1 gene therapy in older patients. Blood 105(11), 4255–4257 (2005).
   Google Scholar
• Hershfield MS. Combined Immune Deficiencies due to Purine Enzymes Defects. In: Immunologic Disorders in Infants and Children. Ochs H, Winkelstein J (Eds), Elsevier-Saunders, PA, USA 480–504 (2004).
   Google Scholar
• Blaese RM, Culver KW, Miller AD et al. T-lymphocyte-directed gene therapy for ADA- SCID: initial trial results after 4 years. Science 270(5235), 475–480 (1995).
   Google Scholar
• Bordignon C, Notarangelo LD, Nobili N et al. Gene therapy in peripheral blood lymphocytes and bone marrow for ADA- immunodeficient patients. Science 270(5235), 470–475 (1995).
   Google Scholar
• Hoogerbrugge PM, Van Beusechem VW, Fischer A et al. Bone marrow gene transfer in three patients with adenosine deaminase deficiency. Gene Ther. 3, 179–183 (1996).
   PubMed Web of Science ®Google Scholar
• Kohn DB, Hershfield MS, Carbonaro D et al. T-lymphocytes with a normal ADA gene accumulate after transplantation of transduced autologous umbilical cord blood CD34+ cells in ADA- deficient SCID neonates. Nature Med. 4(7), 775–780 (1998).
   PubMed Web of Science ®Google Scholar
• Muul LM, Tuschong LM, Soenen SL et al. Persistence and expression of the adenosine deaminase gene for twelve years and immune reaction to gene transfer components: long-term results of the first clinical gene therapy trial. Blood 101(7), 2563–2569 (2002).
   Google Scholar
• Aiuti A, Vai S, Mortellaro A et al. Immune reconstitution in ADA-SCID after PBL gene therapy and discontinuation of enzyme replacement. Nature Med. 8(5), 423–425 (2002).
   PubMed Web of Science ®Google Scholar
• Aiuti A, Slavin S, Aker M et al. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 296(5577), 2410–2413 (2002).
   Google Scholar
• O’Shea JJ, Husa M, Li D et al. Jak3 and the pathogenesis of severe combined immunodeficiency. Mol. Immunol. 41(6–7), 727–737 (2004).
   PubMed Web of Science ®Google Scholar
• Bunting KD, Lu T, Kelly PF, Sorrentino BP. Self-selection by genetically modified committed lymphocyte precursors reverses the phenotype of JAK3-deficient mice without myeloablation. Hum. Gene Ther. 11(17), 2353–2364 (2000).
   Google Scholar
• McCauslin CS, Wine J, Cheng L et al. In vivo retroviral gene transfer by direct intrafemoral injection results in correction of the SCID phenotype in Jak3 knockout animals. Blood 102(3), 843–848 (2003).
   Google Scholar
• Yates F, Malassis-Seris M, Stockholm D et al. Gene therapy of RAG-2-/- mice: sustained correction of the immunodeficiency. Blood 100(12), 3942–3949 (2002).
   PubMed Web of Science ®Google Scholar
• Rideout WM III, Hochedlinger K, Kyba M, Daley GQ, Jaenisch R. Correction of a genetic defect by nuclear transplantation and combined cell and gene therapy. Cell 109(1), 17–27 (2002).
   PubMed Web of Science ®Google Scholar
• Malech HL. Progress in gene therapy for chronic granulomatous disease. J. Infect. Dis. 179(Suppl. 2), S318–S325 (1999).
   Google Scholar
• Barese CN, Goebel WS, Dinauer MC. Gene therapy for chronic granulomatous disease. Expert Opin. Biol. Ther. 4(9), 1423–1434 (2004).
   PubMed Web of Science ®Google Scholar
• Malech HL, Maples PB, Whiting-Theobald N et al. Prolonged production of NADPH oxidase-corrected granulocytes after gene therapy of chronic granulomatous disease. Proc. Natl Acad. Sci. USA 94(22), 12133–12138 (1997).
   PubMed Web of Science ®Google Scholar
• Bauer TR Jr, Hickstein DD. Gene therapy for leukocyte adhesion deficiency. Curr. Opin. Mol. Ther. 2(4), 383–388 (2000).
   PubMedGoogle Scholar
• Taylor N, Bacon KB, Smith S et al. Reconstitution of T-cell receptor signaling in ZAP-70-deficient cells by retroviral transduction of the ZAP-70 gene. J. Exp. Med. 184(5), 2031–2036 (1996).
   PubMed Web of Science ®Google Scholar
• Steinberg M, Swainson L, Schwarz K et al. Retrovirus-mediated transduction of primary ZAP-70-deficient human T-cells results in the selective growth advantage of gene-corrected cells: implications for gene therapy. Gene Ther. 7(16), 1392–1400 (2000).
   Google Scholar
• Charrier S, Stockholm D, Seye K et al. A lentiviral vector encoding the human Wiskott-Aldrich syndrome protein corrects immune and cytoskeletal defects in WASP knockout mice. Gene Ther. 12(7), 597–606 (2005).
   PubMed Web of Science ®Google Scholar
• Dupre L, Trifari S, Follenzi A et al. Lentiviral vector-mediated gene transfer in T-cells from Wiskott-Aldrich syndrome patients leads to functional correction. Mol. Ther. 10(5), 903–915 (2004).
   PubMed Web of Science ®Google Scholar
• Klein C, Nguyen D, Liu CH et al. Gene therapy for Wiskott-Aldrich syndrome: rescue of T-cell signaling and amelioration of colitis upon transplantation of retrovirally transduced hematopoietic stem cells in mice. Blood 101(6), 2159–2166 (2003).
   PubMed Web of Science ®Google Scholar
• Strom TS, Turner SJ, Andreansky S et al. Defects in T-cell-mediated immunity to influenza virus in murine Wiskott-Aldrich syndrome are corrected by oncoretroviral vector-mediated gene transfer into repopulating hematopoietic cells. Blood 102(9), 3108–3116 (2003).
   PubMed Web of Science ®Google Scholar
• Modlich U, Kustikova OS, Schmidt M et al. Leukemias following retroviral transfer of multi-drug resistance 1 (MDR1) are driven by combinatorial insertional mutagenesis. Blood 105(11), 4235–4246 (2005).
   Google Scholar
• Baum C, von Kalle C, Staal FJ et al. Chance or necessity? Insertional mutagenesis in gene therapy and its consequences. Mol. Ther. 9(1), 5–13 (2004).
   PubMed Web of Science ®Google Scholar
• Hacein-Bey-Abina S, von Kalle C, Schmidt M et al. LMO2-associated clonal T-cell proliferation in two patients after gene therapy for SCID-X1. Science 302(5644), 415–419 (2003).
   Google Scholar
• Dave UP, Jenkins NA, Copeland NG. Gene therapy insertional mutagenesis insights. Science 303(5656), 333 (2004).
   PubMed Web of Science ®Google Scholar
• Urnov FD, Miller JC, Lee YL et al. Highly efficient endogenous human gene correction using designed zinc-finger nucleases. Nature 435(7042), 646–651 (2005).
   Google Scholar
• Candotti F, Podsakoff G, Schurman SH et al. Corrective gene transfer into bone marrow CD34+ cells for adenosine deaminase (ADA) deficiency: results in four patients after one year of follow-up. Mol. Ther. 7(5), S448 (2003).
   Google Scholar
• Otsu M, Ariga T, Maeyama Y et al. A clinical trial in Japan of retroviral-mediated gene transfer to bone marrow CD34+ cells as a treatment of adenosine deaminase (ADA)-deficiency. Mol. Ther. 9(Suppl. 1), S67 (2005).
   Google Scholar