In vitro correction of JAK3-deficient severe combined immunodeficiency by retroviral-mediated gene transduction

Journal of Experimental Medicine

Volumn 183, Issue 6, 1996, Pages 2687-2692

  Candotti, Fabio ^a,c   Oakes, Scott A ^b,c   Johnston, James A ^c   Notarangelo, Luigi D ^d   O'Shea, John J ^c   Blaese, R Michael ^a  

^a Natl Ctr for Human Genome Research   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d UNIVERSITY OF BRESCIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHOTRANSFERASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; COMBINED IMMUNODEFICIENCY; ENZYME INDUCTION; ENZYME PHOSPHORYLATION; EXPRESSION VECTOR; GENE TARGETING; GENE THERAPY; GENETIC TRANSDUCTION; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; RETROVIRUS;

B-LYMPHOCYTES; BLOTTING, WESTERN; CELLS, CULTURED; CHILD; CLONING, MOLECULAR; CONSANGUINITY; GENE THERAPY; GENES, RECESSIVE; GENETIC VECTORS; HUMANS; INTERLEUKIN-2; JANUS KINASE 3; LYMPHOCYTE ACTIVATION; MACROMOLECULAR SUBSTANCES; MALE; PROTEIN-TYROSINE KINASES; RECEPTORS, INTERLEUKIN; RECOMBINANT PROTEINS; RETROVIRIDAE; SEVERE COMBINED IMMUNODEFICIENCY; TRANSFECTION; X CHROMOSOME;

EID: 0029896604     PISSN: 00221007     EISSN: None     Source Type: Journal    
DOI: 10.1084/jem.183.6.2687     Document Type: Article

References (42)

1. Taniguchi, T. 1995. Cytokine signaling through nonreceptor protein tyrosine kinases. Science (Wash. DC). 268:251-255.
2. Ihle, J.N. 1995. Cytokine receptor signalling. Nature (Lond.). 377:591-594.
3. Kawamura, M., D.W. McVicar, J.A. Johnston, T.B. Blake, Y.Q. Chen, B.K. Lal, A.R. Lloyd, D.J. Kelvin, J.E. Staples, J.R. Ortaldo, and J.J. O'Shea. 1994. Molecular cloning of L-JAK, a Janus family protein-tyrosine kinase expressed in natural killer cells and activated leukocytes. Proc. Natl. Acad. Sci. USA. 91:6374-6378.
4. Takeshita, T., H. Asao, K. Ohtani, N. Ishii, S. Kumaki, N. Tanaka, H. Munakata, M. Nakamura, and K. Sugamura. 1992. Cloning of the gamma chain of the human IL-2 receptor. Science (Wash. DC). 257:379-382.
5. Kondo, M., T. Takeshita, N. Ishii, M. Nakamura, S. Watanabe, K. Arai, K. Sugamura, M. Matsuoka, T. Takeshita, N. Ishii, M. Nakamura, T. Ohkubo, and K. Sugamura. 1993. Sharing of the interleukin-2 (IL-2) receptor gamma chain between receptors for IL-2 and IL-4. Science (Wash. DC). 262: 1874-1877.
6. Russell, S.M., A.D. Keegan, N. Harada, Y. Nakamura, M. Noguchi, P. Leland, M.C. Friedmann, A. Miyajima, R.K. Puri, W.E. Paul, and W.J. Leonard. 1993. Interleukin-2 receptor gamma chain: a functional component of the interleukin-4 receptor. Science (Wash. DC). 262:1880-1883.
7. Noguchi, M., Y. Nakamura, S.M. Russell, S.F. Ziegler, M. Tsang, X. Cao, and W.J. Leonard. 1993. Interleukin-2 receptor gamma chain: a functional component of the interleukin-7 receptor. Science (Wash. DC). 262:1877-1880.
8. Kondo, M., T. Takeshita, M. Higuchi, M. Nakamura, T. Sudo, S. Nishikawa, and K. Sugamura. 1994. Functional participation of the IL-2 receptor gamma chain in IL-7 receptor complexes. Science (Wash. DC). 263:1453-1454.
9. Kimura, Y., T. Takeshita, M. Kondo, N. Ishii, M. Nakamura, J. Van Snick, and K. Sugamura. 1995. Sharing of the IL-2 receptor gamma chain with the functional IL-9 receptor complex. Int. Immunol. 7:115-120.
10. Giri, J.G., M. Ahdieh, J. Eisenman, K. Shanebeck, K. Grabstein, S. Kumaki, A. Namen, L.S. Park, D. Cosman, and D. Anderson. 1994. Utilization of the beta and gamma chains of the IL-2 receptor by the novel cytokine IL-15. EMBO (Eur. Mol. Biol. Organ.) J. 13:2822-2830.
11. Russell, S.M., J.A. Johnston, M. Noguchi, M. Kawamura, C.M. Bacon, M. Friedmann, M. Berg, D.W. McVicar, B.A. Witthuhn, O. Silvennoinen et al. 1994. Interaction of IL-2R beta and gamma c chains with Jak1 and Jak3: implications for XSCID and XCID. Science (Wash. DC). 266:1042-1045.
12. Johnston, J.A., M. Kawamura, R.A. Kirken, Y.Q. Chen, T.B. Blake, K. Shibuya, J.R. Ortaldo, D.W. McVicar, and J.J. O'Shea. 1994. Phosphorylation and activation of the Jak-3 Janus kinase in response to interleukin-2. Nature (Lond.). 370: 151-153.
13. Witthuhn, B.A., O. Silvennoinen, O. Miura, K.S. Lai, C. Cwik, E.T. Liu, and J.N. Ihle. 1994. Involvement of the Jak-3 Janus kinase in signalling by interleukins 2 and 4 in lymphoid and myeloid cells. Nature (Lond.). 370:153-157.
14. Johnston, J.A., C.M. Bacon, D.S. Finbloom, R.C. Rees, D. Kaplan, K. Shibuya, J.R. Ortaldo, S. Gupta, Y.Q. Chen, J.D. Giri, and J.J. O'Shea. 1995. Tyrosine phosphorylation and activation of STAT5, STAT3, and Janus kinases by interleukins 2 and 15. Proc. Natl. Acad. Sci. USA. 92:8705-8709.
15. Ihle, J.N. 1996. STATs: signal transducers and activators of transcription. Cell. 84:331-334.
16. Noguchi, M., H. Yi, H.M. Rosenblatt, A.H. Filipovich, S. Adelstein, W.S. Modi, O.W. McBride, and W.J. Leonard. 1993. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell. 73:147-157.
17. Puck, J.M., S.M. Deschenes, J.C. Porter, A.S. Dutra, C.J. Brown, H.F. Willard, and P.S. Henthorn. 1993. The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum. Mol. Genet. 2:1099-1104.
18. Conley, M.E. 1991. X-linked severe combined immunodeficiency. Clin. Immunol. Immunopathol. 61:S94-S99.
19. Macchi, P., A. Villa, S. Giliani, M.G. Sacco, A. Frattini, F. Porta, A.G. Ugazio, J.A. Johnston, F. Candotti, J.J. O'Shea et al. 1995. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature (Lond.). 377:65-68.
20. Russell, S.M., N. Tayebi, H. Nakajima, M.C. Riedy, J.L. Roberts, M.J. Aman, T.S. Migone, M. Noguchi, M.L. Markert, R.H. Buckley et al. 1995. Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. Science (Wash. DC). 270:797-800.
21. Friedrich, W., C. Knobloch, J. Greher, W. Hartmann, H.H. Peter, S.F. Goldmann, and E. Kleihauer. 1993. Bone marrow transplantation in severe combined immunodeficiency: potential and current limitations. Immunodeficiency. 4:315-322.
22. Miller, A.D., and C. Buttimore. 1986. Redesign of retrovirus packaging cell lines to avoid recombination leading to helper virus production. Mol. Cell. Biol. 6:2895-2902.
23. Miller, A.D., J.V. Garcia, N. von Suhr, C.M. Lynch, C. Wilson, and M.V. Eiden. 1991. Construction and properties of retrovirus packaging cells based on gibbon ape leukemia virus. J. Virol. 65:2220-2224.
24. Markowitz, D., S. Goff, and A. Bank. 1988. Construction and use of a safe and efficient amphotropic packaging cell line. Virology. 167:400-406.
25. Sambrook, J., E. Fritsch, and T. Maniatis. 1989. Molecular Cloning: A Laboratory Manual. Cold Spring Harbor Press, Cold Spring Harbor, NY. F1-11.
26. Williams, D.A., K. Hsieh, A. DeSilva, and R.C. Mulligan. 1987. Protection of bone marrow transplant recipients from lethal doses of methotrexate by the generation of methotrexate-resistant bone marrow. J. Exp. Med. 166:210-218.
27. Candotti, F., J.A. Johnston, J.M. Puck, K. Sugamura, J.J. O'Shea, and R.M. Blaese. 1996. Retroviral-mediated gene correction for X-linked severe combined immunodeficiency (XSCID). Blood. 87:3097-3102.
28. Bunnell, B.A., Muul, L.M., Donahue, R.E., Blaese, R.M., Morgan, R.A. 1995. High-efficiency retroviral-mediated gene transfer into human and non-human primate peripheral blood lymphocytes. Proc. Natl. Acad. Sci. USA. 92:7739-7743.
29. Miyazaki, T., A. Kawahara, H. Fuji, Y. Nakagawa, Y. Minami, Z.J. Liu, I. Oishi, O. Silvennoinen, B.A. Witthuhn, J.N. Ihle, and T. Taniguchi. 1994. Functional activation of Jak1 and Jak3 by selective association with IL-2 receptor subunits. Science (Wash. DC). 266:1045-1047.
30. Kawahara, A., Y. Minami, T. Miyazaki, J.N. Ihle, and T. Taniguchi. 1995. Critical role of the interleukin 2 (IL-2) receptor gamma-chain-associated Jak3 in the IL-2-induced c-fos and c-myc, but not bcl-2, gene induction. Proc. Natl. Acad. Sci. USA. 92:8724-8728.
31. Buckley, R.H. 1993. Primary Immunodeficiency Diseases. In Fundamental Immunology. W.E. Paul, editor. Raven Press, New York, NY. 1353-1374.
32. Fischer, A., P. Landais, W. Friedrich, G. Morgan, B. Gerritsen, A. Fasth, F. Porta, C. Griscelli, S.F. Goldman, R. Levinsky, and J. Vossen. 1990. European experience of bone-marrow transplantation for severe combined immunodeficiency. Lancet. 336:850-854.
33. Blaese, R.M., K.W. Culver, A.D. Miller, C.S. Carter, T. Fleisher, M. Clerici, G. Shearer, L. Chang, Y. Chiang, P. Tolstoshev et al. 1995. T lymphocyte-directed gene therapy for ADA-SCID: initial trial results after 4 years. Science (Wash. DC). 270:475-480.
34. Williams, D.A., I.R. Lemischka, D.G. Nathan, and R.C. Mulligan. 1984. Introduction of new genetic material into pluripotent haematopoietic stem cells of the mouse. Nature (Lond.). 310:476-480.
35. Kantoff, P.W., A.P. Gillio, J.R. McLachlin, C. Bordignon, M.A. Eglitis, N.A. Kernan, R.C. Moen, D.B. Kohn, S.F. Yu, E. Karson et al. 1987. Expression of human adenosine deaminase in nonhuman primates after retrovirus-mediated gene transfer. J. Exp. Med. 166:219-234.
36. Kiem, H.P., B. Darovsky, C. von Kalle, S. Goehle, D. Stewart, T. Graham, R. Hackman, F.R. Appelbaum, H.J. Deeg, A.D. Miller et al. 1994. Retrovirus-mediated gene transduction into canine peripheral blood repopulating cells. Blood. 83:1467-1473.
37. Dunbar, C.E., M. Cottler-Fox, J.A. O'Shaughnessy, S. Doren, C. Carter, R. Berenson, S. Brown, R.C. Moen, J. Greenblatt, F.M. Stewart et al. 1995. Retrovirally marked CD34-enriched peripheral blood and bone marrow cells contribute to long-term engraftment after autologous transplantation. Blood. 85:3048-3057.
38. Kohn, D.B., K.I. Weinberg, J.A. Nolta, L.N. Heiss, C. Lenarsky, G.M. Crooks, M.E. Hanley, G. Annett, J.S. Brooks, A. el-Khoureiy et al. 1995. Engraftment of gene-modified umbilical cord blood cells in neonates with adenosine deaminase deficiency. Nat. Med. 1:1017-1023.
39. Bordignon, C., L.D. Notarangelo, N. Nobili, G. Ferrari, G. Casorati, P. Panina, E. Mazzolari, D. Maggioni, C. Rossi, P. Servida et al. 1995. Gene therapy in peripheral blood lymphocytes and bone marrow for ADA-immunodefident patients. Science (Wash. DC). 270:470-475.
40. Thomis, D.C., C.B. Gurniak, E. Tivol, A.H. Sharpe, and L.J. Berg. 1995. Defects in B lymphocyte maturation and T lymphocyte activation in mice lacking Jak3. Science (Wash. DC). 270:794-797.
41. Nosaka, T., J.M. van Deursen, R.A. Tripp, W.E. Thierfelder, B.A. Witthuhn, A.P. McMickle, P.C. Doherty, G.C. Grosveld, and J.N. Ihle. 1995. Defective lymphoid development in mice lacking Jak3. Science (Wash. DC). 270:800-802.
42. Park, S.J., K. Saijo, T. Takahashi, M. Osawa, H. Arase, N. Hirayama, K. Miyake, H. Nakauchi, T. Shirasawa, and T. Saito. 1995. Developmental defects of lymphoid cells in JAK3 kinase-deficient mice. Immunity. 3:771-782.