Perspectives of gene therapy for primary immunodeficiencies

Current Opinion in Allergy and Clinical Immunology

Volumn 4, Issue 6, 2004, Pages 523-527

  Chinen, Javier ^a   Puck, Jennifer M ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Gene therapy; Insertional mutagenesis; Primary immunodeficiency; Retroviral vector; SCID

Indexed keywords

ADENOSINE DEAMINASE; ANTILEUKEMIC AGENT; COMPLEMENTARY DNA; JANUS KINASE; JANUS KINASE 3; RAG2 PROTEIN; RETROVIRUS VECTOR; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR LIM DOMAIN ONLY 2; UNCLASSIFIED DRUG;

ADENOSINE DEAMINASE DEFICIENCY; ADENOSINE DEAMINASE GENE; ALPHA BETA T CELL; AUTOLOGOUS HEMATOPOIETIC STEM CELL TRANSPLANTATION; BONE MARROW TRANSPLANTATION; CANCER RISK; CELL PROLIFERATION; CHRONIC GRANULOMATOUS DISEASE; CLINICAL PROTOCOL; COMBINED IMMUNODEFICIENCY; ENZYME REPLACEMENT; GAMMA DELTA T CELL; GENE; GENE EXPRESSION; GENE INSERTION; GENE LOCUS; GENE THERAPY; GENETIC TRANSDUCTION; HUMAN; IL2RG GENE; IMMUNE DEFICIENCY; IMMUNITY; JAK3 DEFICIENCY; LEUKEMIA; LEUKEMIA CELL; LEUKEMIA REMISSION; LYMPHOCYTE CLONE; PATIENT MONITORING; PRIORITY JOURNAL; PROTEIN DOMAIN; RAG2 DEFICIENCY; RELAPSE; REVIEW; STEM CELL; T LYMPHOCYTE; WISKOTT ALDRICH SYNDROME; X CHROMOSOME LINKED DISORDER;

ADENOSINE DEAMINASE; CHROMOSOMES, HUMAN, X; GENE THERAPY; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; LEUKEMIA; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 9644272573     PISSN: 15284050     EISSN: None     Source Type: Journal    
DOI: 10.1097/00130832-200412000-00008     Document Type: Review

References (39)

1. Buckley RH. Primary immunodeficiency disease: dissectors of the immune system, Immunol Rev 2002; 185:206-219.
2. Chapel H, Geha R, Rosen F. For the IUIS PID classification committee. Primary immunodeficiency diseases: an update. Clin Exp Immunol 2003; 132:9-15. This discusses the latest international effort to compile all recognized primary immunodeficiencies.
3. Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol 2004; 22:625-655. This is a comprehensive review of SCID molecular genetics and current therapies, including gene therapy.
4. Buckley RH, Fischer A. Bone marrow transplantation for primary immunodeficiency diseases. In: Ochs H, Smith CIE, Puck JM, editors. Primary immunodeficiency diseases, a molecular and genetic approach. New York: Oxford University Press; 1999. pp. 459-489.
5. Antoine C, Suller S, Cant A, et al. Long-term survival and transplantation of hematopoietic stem cells for immunodeficiencies: report of the European experience 1968-1999. Lancet 2003; 361:553-556.
6. Brenner S, Malech HL. Current developments in the design of oncoretrovirus and lentivirus vector systems for hematopoietic cell gene therapy. Biochim Biophys Acta 2003; 1640:1-24. This is an updated review of retroviral vector design strategies.
7. Cavazzana-Calvo M, Hacein-Bey-Abina S, Fischer A. Gene therapy for X-linked severe combined immunodeficiency. Curr Opin Allergy Clin Immunol 2002; 2:507-509.
8. Aiuti C, Cattaneo F, Ficara F, et al. Gene therapy for adenosine deaminase deficiency. Curr Opin Allergy Clin Immunol 2003; 3:461-466.
9. Puck JM. X-linked severe combined immunodeficiency. In: Ochs H, Smith CIE, Puck JM, editors. Primary immunodeficiency diseases, a molecular and genetic approach. New York: Oxford University Press; 1999. pp. 99-110.
10. 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 2002; 346:1185-1193.
11. 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 2003; 302:415-419. The authors describe molecular studies in two patients who developed leukemia secondary to gene therapy insertional mutagenesis.
12. Thrasher AJ. Immune recovery following retroviral mediated common gamma chain gene therapy for X-linked severe combined immunodeficiency. In: American Society of Gene Therapy's Sixth Annual Meeting Executive Summaries. Volume 36. Milwaukee: American Society of Gene Therapy; 2003.
13. Hacein-Bey-Abina S, von Kalle C, Schmidt M, et al. A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. New Engl J Med 2003; 348:255-256.
14. Kohn DB, Sadelain M, Dunbar C, et al. American Society of Gene Therapy (ASGT) ad hoc subcommittee on retroviral-mediated gene transfer to hematopoietic stem cells. Mol Ther 2003; 8:180-187. This provides a comprehensive review of the literature on insertional mutagenesis in gene therapy studies.
15. McCormack MP, Rabbitts TH. Activation of the T-cell oncogene LMO2 after gene therapy for X-linked severe combined immunodeficiency. New Engl J Med 2004; 350:913-922.
16. Dave UP, Jenkins NA, Copeland NG. Gene therapy insertional mutagenesis insights. Science 2004; 303:333. This provides an analysis of a large number of retroviral insertions in mouse models and their propensity to cause malignant transformation.
17. Fischer A, Thrasher A, von Kalle C, Cavazzana-Calvo M. LMO2 and gene therapy for severe combined immunodeficiency. New Engl J Med 2004; 350:2526-2527.
18. Baum C, von Kalle C, Staal FJ, et al. Chance or necessity? Insertional mutagenesis in gene therapy and its consequences. Mol Ther 2004; 9:5-13. This article analyzes the possible mechanisms of oncogenesis in retroviral gene therapy.
19. Sadelain M. Insertional oncogenesis in gene therapy: how much of a risk? Gene Ther 2004; 11:569-573. This author provides another article analyzing the possible mechanisms of oncogenesis in retroviral gene therapy from a different point of view.
20. International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 2001; 409:860-921.
21. Schroder AR, Shinn P, Chen H, et al. HIV-1 integration in the human genome favors active genes and local hotspots. Cell 2002; 110:521-529.
22. Laufs S, Gentner B, Nagy KZ, et al. Retroviral integration occurs into preferred genomic targets of human bone marrow repopulating cells. Blood 2002; 101:2191-2198.
23. Wu X, Li Y, Crise B, Burgess SM. Transcription start regions in the human genome are favored targets for MLV integration. Science 2003; 300:1749-1751. The authors discuss high-throughput analysis of retroviral insertion sites made possible by human genome sequence technology.
24. Hirschhorn R. Immunodeficiency disease due to deficiency of adenosine deaminase. In: Ochs H, Smith CIE, Puck JM, editors. Primary immunodeficiency diseases, a molecular and genetic approach. New York: Oxford University Press; 1999. pp. 121-139.
25. Muul LM, Tuschong LM, Soenen SL, et al. Persistence and expression of the adenosine deaminase gene for 12 years and immune reaction to gene transfer components: long-term results of the first clinical gene therapy trial. Blood 2003; 101:2563-2569.
26. Aiuti A, Slavin S, Aker M, et al. Correction of ADA-SCID by stem cell gene therapy combined with non-myeloablative conditioning. Science 2002; 296:2410-2413. This describes the first successful retroviral gene therapy of ADA-SCID, using myeloablative chemotherapy in patients never treated with PEG-ADA.
27. Aiuti C, Cattaneo F, Cassani B, et al. Safety and efficacy of stem cell gene therapy combined with nonmyeloablative conditioning for the treatment of ADA-SCID [abstract]. Blood 2003; 102:531.
28. Chinen J, Puck JM. Successes and risks of gene therapy for primary immunodeficiencies. J Allergy Clin Immunol 2004; 113:595-603.
29. Segal BH, Leto TL, Gallin JI, et al. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine 2000; 79:170-200.
30. Malech HL, Maples PB, Whitting-Theobald N, et al. Prolonged production of NADPH oxidase-corrected granulocytes after gene therapy of chronic granulomatous disease. Proc Natl Acad Sci USA 1997; 94:12133-12138.
31. Roesler J, Brenner S, Bukovsky AA, et al. Third-generation, self-inactivating gp91 (phox) lentivector corrects the oxidase defect in NOD/SCID mouse-repopulating peripheral blood-mobilized CD34+ cells from patients with X-linked chronic granulomatous disease. Blood 2002; 100:4381-4390.
32. Brenner S, Whitting-Theobald NL, Linton GF, et al. Concentrated RD114-pseudotyped MFGS-gp91phox vector achieves high levels of functional correction of the chronic granulomatous disease oxidase defect in NOD/SCID/beta-microglobulin -/- repopulating mobilized human peripheral blood CD34+ cells. Blood 2003; 102:2789-2797.
33. Notarangelo LD, Ochs HD. Wiskott-Aldrich Syndrome: a model for defective actin reorganization, cell trafficking and synapse formation. Curr Opin Immunol 2003; 15:585-591.
34. Wada T, Jagadesh GJ, Nelson DL, Candotti F. Retrovirus-mediated WASP gene transfer corrects Wiskott-Aldrich syndrome T-cell dysfunction. Hum Gene Ther 2002; 13:1039-1046. This article describes correction of immune function in WASP knockout mice with hematopoietic stem cells transduced with WASP gene.
35. 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 2003; 101:2159-2166.
36. Strom TS, Turner SJ, Andreansky S, et al. Defects in T-cell mediated immunity by influenza virus in murine Wiskott-Aldrich syndrome are corrected by oncoretroviral vector-mediated gene transfer into repopulating hematopoietic cells. Blood 2003; 102:3108-3116.
37. Strom TS, Gabbard W, Kelly PF, et al. Functional correction of T-cells derived from patients with the Wiskott-Aldrich syndrome (WAS) by transduction with an oncoretroviral vector encoding the WAS protein. Gene Ther 2003; 10:803-809.
38. Yates F, Malassis-Seris M, Stockholm D, et al. Gene therapy of RAG-2-/-mice: sustained correction of the immunodeficiency. Blood 2002; 100:3942-3949.
39. 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 knock-out animals. Blood 2003; 102:843-848. This article describes the use of direct intrafemoral injection to achieve gene transfer in hematopoietic stem cells, in mice.