Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1

Nature Medicine

Volumn 12, Issue 4, 2006, Pages 401-409

  Ott, Marion G ^a   Schmidt, Manfred ^b,c,d   Schwarzwaelder, Kerstin ^c,d   Stein, Stefan ^e   Siler, Ulrich ^f   Koehl, Ulrike ^a   Glimm, Hanno ^b,c   Kühlcke, Klaus ^g   Schilz, Andrea ^g   Kunkel, Hana ^e   Naundorf, Sonja ^g   Brinkmann, Andrea ^a   Deichmann, Annette ^c,d   Fischer, Marlene ^b,c   Ball, Claudia ^c,d   Pilz, Ingo ^c,d   Dunbar, Cynthia ^h   Du, Yang ⁱ   Jenkins, Nancy A ⁱ   Copeland, Neal G ⁱ   Lüthi, Ursula ^j   Hassan, Moustapha ^k   Thrasher, Adrian J ^l   Hoelzer, Dieter ^a   Von Kalle, Christof ^b,c,d,m   Seger, Reinhard ^f   Grez, Manuel ^e   more..

^a UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY OF FREIBURG   (Germany)

^d GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^e Institute for Biomedical Research   (Germany)

^f UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^g BIONTECH AG   (Germany)

^h NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

ⁱ NATIONAL CANCER INSTITUTE   (United States)

^j UNIVERSITY OF ZURICH   (Switzerland)

^k KAROLINSKA INSTITUTE   (Sweden)

^l UNIVERSITY COLLEGE LONDON   (United Kingdom)

^m CINCINNATI CHILDREN S HOSPITAL RESEARCH FOUNDATION   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BUSULFAN; PROTEIN; PROTEIN MDS1 EV11; PROTEIN PRDM16; PROTEIN SETBP1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CHRONIC GRANULOMATOUS DISEASE; DNA MODIFICATION; GENE ACTIVATION; GENE INSERTION; GENE THERAPY; GENE TRANSFER; HEMATOPOIESIS; HUMAN; MOLECULAR CLONING; MUCOSA INFLAMMATION; MYELOPOIESIS; NEUTROPHIL; NONMYELOABLATIVE CONDITIONING; PHAGOCYTE DYSFUNCTION; PHAGOCYTOSIS; PRIORITY JOURNAL; STEM CELL TRANSPLANTATION; TREATMENT OUTCOME; X CHROMOSOME LINKED DISORDER;

ADULT; CARRIER PROTEINS; CHROMOSOMES, HUMAN, X; CLINICAL TRIALS; DNA-BINDING PROTEINS; GENE THERAPY; GENE TRANSFER TECHNIQUES; GENETIC MARKERS; GENETIC VECTORS; GRANULOMATOUS DISEASE, CHRONIC; HEMATOPOIETIC STEM CELLS; HUMANS; LINKAGE (GENETICS); MUTAGENESIS, INSERTIONAL; NEOPLASM PROTEINS; NEUTROPHILS; NUCLEAR PROTEINS; RETROVIRIDAE; RNA, MESSENGER; TRANSCRIPTION FACTORS; TREATMENT OUTCOME;

EID: 33645734405     PISSN: 10788956     EISSN: 1546170X     Source Type: Journal    
DOI: 10.1038/nm1393     Document Type: Article

References (47)

1. Cavazzana-Calvo, M. et al. Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science 288, 669-672 (2000).
2. Aiuti, A. et al. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 296, 2410-2413 (2002).
3. Hacein-Bey-Abina, S. et al. Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N. Engl. J. Med. 346, 1185-1193 (2002).
4. Gaspar, H.B. et al. Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector. Lancet 364, 2181-2187 (2004).
5. Malech, H.L. et al. Prolonged production of NADPH oxidase-corrected granulocytes after gene therapy of chronic granulomatous disease. Proc. Natl. Acad. Sci. USA 94, 12133-12138 (1997).
6. + cells from patients with Gaucher disease: in vivo detection of transduced cells without myeloablation. Hum. Gene Ther. 9, 2629-2640 (1998).
7. + cells in ADA-deficient SCID neonates. Nat. Med. 4, 775-780 (1998).
8. Malech, H.L., Choi, U. & Brenner, S. Progress toward effective gene therapy for chronic granulomatous disease. Jpn. J. Infect. Dis. 57, 27-28 (2004).
9. Barese, C.N., Goebel, W.S. & Dinauer, M.C. Gene therapy for chronic granulomatous disease. Expert Opin. Biol. Ther. 4, 1423-1434 (2004).
10. Roos, D. The genetic basis of chronic granulomatous disease. Immunol. Rev. 138, 121-157 (1994).
11. Segal, A.W. The NADPH oxidase and chronic granulomatous disease. Mol. Med. Today 2, 129-135 (1996).
12. Segal, B.H., Leto, T.L., Gallin, J.I., Malech, H.L. & Holland, S.M. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore) 79, 170-200 (2000).
13. Heyworth, P.G., Cross, A.R. & Curnutte, J.T. Chronic granulomatous disease. Curr. Opin. Immunol. 15, 578-584 (2003).
14. Winkelstein, J.A. et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 79, 155-169 (2000).
15. Babior, B.M. NADPH oxidase. Curr. Opin. Immunol. 16, 42-47 (2004).
16. Seger, R.A. et al. Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: a survey of the European experience, 1985-2000. Blood 100, 4344-4350 (2002).
17. Mardiney, M., 3rd et al. Enhanced host defense after gene transfer in the murine p47phox-deficient model of chronic granulomatous disease. Blood 89, 2268-2275 (1997).
18. Dinauer, M.C., Li, L.L., Bjorgvinsdottir, H., Ding, C. & Pech, N. Long-term correction of phagocyte NADPH oxidase activity by retroviral-mediated gene transfer in murine X-linked chronic granulomatous disease. Blood 94, 914-922 (1999).
19. Sadat, M.A. et al. Long-term high-level reconstitution of NADPH oxidase activity in murine X-linked chronic granulomatous disease using a bicistronic vector expressing gp91phox and a Delta LNGFR cell surface marker. Hum. Gene Ther. 14, 651-666 (2003).
20. Hacein-Bey-Abina, S. et al. LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science 302, 415-419 (2003).
21. Baum, C. et al. Chance or necessity? Insertional mutagenesis in gene therapy and its consequences. Mol. Ther. 9, 5-13 (2004).
22. von Kalle, C. et al. Stem cell clonality and genotoxicity in hematopoietic cells: gene activation side effects should be avoidable. Semin. Hematol. 41, 303-318 (2004).
23. Bjorgvinsdottir, H. et al. Retroviral-mediated gene transfer of gp91phox into bone marrow cells rescues defect in host defense against Aspergillus fumigatus in murine X-linked chronic granulomatous disease. Blood 89, 41-48 (1997).
24. Schmidt, M. et al. Polyclonal long-term repopulating stem cell clones in a primate model. Blood 100, 2737-2743 (2002).
25. + cells from the cord blood of ADA-deficient SCID neonates. Nat. Med. 9, 463-468 (2003).
26. Suzuki, T. New genes involved in cancer identified by retroviral tagging. Nat. Genet. 32, 166-174 (2004).
27. Yamauchi, A. et al. Location of the epitope for 7D5, a monoclonal antibody raised against human flavocytochrome b558, to the extracellular peptide portion of primate gp91phox. Microbiol. Immunol. 45, 249-257 (2001).
28. Mayo, L.A. & Curnutte, J.T. Kinetic microplate assay for superoxide production by neutrophils and other phagocytic cells. Methods Enzymol. 186, 567-575 (1990).
29. Hamers, M.N., Bot, A.A., Weening, R.S., Sips, H.J. & Roos, D. Kinetics and mechanism of the bactericidal action of human neutrophils against Escherichia coli. Blood 64, 635-641 (1984).
30. Rex, J.H., Bennett, J.E., Gallin, J.I., Malech, H.L. & Melnick, D.A. Normal and deficient neutrophils can cooperate to damage Aspergillus fumigatus hyphae. J. Infect. Dis. 162, 523-528 (1990).
31. Hassan, M. et al. Pharmacokinetics and distribution of liposomal busulfan in the rat: a new formulation for intravenous administration. Cancer Chemother. Pharmacol. 42, 471-478 (1998).
32. Hassan, Z. et al. Pharmacokinetics of liposomal busulphan in man. Bone Marrow Transplant. 27, 479-485 (2001).
33. Du, Y., Jenkins, N.A. & Copeland, N.G. Insertional mutagenesis identifies genes that promote the immortalization of primary bone marrow progenitor cells. Blood 106, 3932-3939 (2005).
34. Kustikova, O. et al. Clonal dominance of hematopoietic stem cells triggered by retroviral gene marking. Science 308, 1171-1174 (2005).
35. Baum, C., Hegewisch-Becker, S., Eckert, H.G., Stocking, C. & Ostertag, W. Novel retroviral vectors for efficient expression of the multidrug resistance (mdr-1) gene in early hematopoietic cells. J. Virol. 69, 7541-7547 (1995).
36. Thrasher, A.J. et al. Failure of SCID-X1 gene therapy in older patients. Blood 105, 4255-4257 (2005).
37. Buonamici, S. et al. EVI1 induces myelodysplastic syndrome in mice. J. Clin. Invest. 114, 713-719 (2004).
38. Johansson, B., Fioretos, T. & Mitelman, F. Cytogenetic and molecular genetic evolution of chronic myeloid leukemia. Acta Haematol. 107, 76-94 (2002).
39. Li, Z. et al. Murine leukemia induced by retroviral gene marking. Science 296, 497 (2002).
40. Buonamici, S., Chakraborty, S., Senyuk, V. & Nucifora, G. The role of EVI1 in normal and leukemic cells. Blood Cells Mol. Dis. 31, 206-212 (2003).
41. Calmels, B. et al. Recurrent retroviral vector integration at the MDS1-EVI1 locus in rhesus long-term repopulating hematopoietic stem cells. Blood 106, 2530-2533 (2005).
42. Glimm, H. et al. Efficient marking of human cells with rapid but transient repopulating activity in autografted recipients. Blood 106, 893-898 (2005).
43. Dinauer, M.C., Gifford, M.A., Pech, N., Li, L.L. & Emshwiller, P. Variable correction of host defense following gene transfer and bone marrow transplantation in murine X-linked chronic granulomatous disease. Blood 97, 3738-3745 (2001).
44. Mills, E.L., Rholl, K.S. & Quie, P.G. X-linked inheritance in females with chronic granulomatous disease. J. Clin. Invest. 66, 332-340 (1980).
45. Johnston, R.B., 3rd, Harbeck, R.J. & Johnston, R.B., Jr. Recurrent severe infections in a girl with apparently variable expression of mosaicism for chronic granulomatous disease. J. Pediatr. 106, 50-55 (1985).
46. Rosen-Wolff, A. et al. Increased susceptibility of a carrier of X-linked chronic granulomatous disease (CGD) to Aspergillus fumigatus infection associated with age-related skewing of lyonization. Ann. Hematol. 80, 113-115 (2001).
47. Wolach, B., Scharf, Y., Gavrieli, R., de Boer, M. & Roos, D. Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB. Blood 105, 61-66 (2005).