Lymphoid Development and Function in X-Linked Severe Combined Immunodeficiency Mice after Stem Cell Gene Therapy

Molecular Therapy

Volumn 1, Issue 2, 2000, Pages 145-153

  Otsu, Makoto ^a   Anderson, Stacie M ^b   Bodine, David M ^b   Puck, Jennifer M ^b   O'Shea, John J ^c   Candotti, Fabio ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

Author keywords

Common gamma chain; Gene therapy; Retroviral vector; XSCID

Indexed keywords

CYTOKINE RECEPTOR; IMMUNOGLOBULIN G; INTERLEUKIN 2 RECEPTOR;

ANIMAL; ARTICLE; B LYMPHOCYTE; BONE MARROW CELL; BONE MARROW TRANSPLANTATION; CELL DIVISION; CELL LINE; FLOW CYTOMETRY; GENE THERAPY; GENE VECTOR; GENETIC LINKAGE; GENETIC TRANSDUCTION; GENETICS; GROWTH, DEVELOPMENT AND AGING; IMMUNOLOGY; IMMUNOPHENOTYPING; LYMPHATIC SYSTEM; LYMPHOCYTE COUNT; METABOLISM; MOUSE; MOUSE MUTANT; NATURAL KILLER CELL; PHYSIOLOGY; RETROVIRUS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; T LYMPHOCYTE; TRANSGENE; X CHROMOSOME;

ANIMALS; B-LYMPHOCYTES; BONE MARROW CELLS; BONE MARROW TRANSPLANTATION; CELL DIVISION; CELL LINE; FLOW CYTOMETRY; GENE THERAPY; GENETIC VECTORS; IMMUNOGLOBULIN G; IMMUNOPHENOTYPING; KILLER CELLS, NATURAL; LINKAGE (GENETICS); LYMPHATIC SYSTEM; LYMPHOCYTE COUNT; MICE; MICE, KNOCKOUT; MICE, SCID; RECEPTORS, CYTOKINE; RECEPTORS, INTERLEUKIN-2; RETROVIRIDAE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; T-LYMPHOCYTES; TRANSDUCTION, GENETIC; TRANSGENES; X CHROMOSOME;

EID: 0034138030     PISSN: 15250016     EISSN: None     Source Type: Journal    
DOI: 10.1006/mthe.1999.0020     Document Type: Article

References (37)

1. Buckley R. H., Schiff R. I., Schiff S. E., Markert M. L., Williams L. W., Harville T. O., Roberts J. L., Puck J. M. Human severe combined immunodeficiency: Genetic, phenotypic, and functional diversity in one hundred eight infants. J. Pediatr. 130:1997;378-387.
2. Haddad E. Long-term immune reconstitution and outcome after HLA-nonidentical T-cell-depleted bone marrow transplantation for severe combined immunodeficiency: A European retrospective study of 116 patients. Blood. 91:1998;3646-3653.
3. Buckley R. H., Schiff S. E., Schiff R. I., Markert L., Williams L. W., Roberts J. L., Myers L. A., Ward F. E. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. New Engl. J. Med. 340:1999;508-516.
4. Noguchi M., Yi H., Rosenblatt H. M., Filipovich A. H., Adelstein S., Modi W. S., McBride O. W., Leonard W. J. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell. 73:1993;147-157.
5. Puck J. M., Deschenes S. M., Porter J. C., Dutra A. S., Brown C. J., Willard H. F., Henthorn P. S. The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum. Mol. Genet. 2:1993;1099-1104.
6. Leonard W. J., Shores E. W., Love P. E. Role of the common cytokine receptor gamma chain in cytokine signaling and lymphoid development. Immunol. Rev. 148:1995;97-114.
7. DiSanto J. P., Muller W., Guy-Grand D., Fischer A., Rajewsky K. Lymphoid development in mice with a targeted deletion of the interleukin 2 receptor gamma chain. Proc. Natl. Acad. Sci. USA. 92:1995;377-381.
8. Cao X. Defective lymphoid development in mice lacking expression of the common cytokine receptor gamma chain. Immunity. 2:1995;223-238.
9. Ohbo K. Modulation of hematopoiesis in mice with a truncated mutant of the interleukin-2 receptor gamma chain. Blood. 87:1996;956-967.
10. Jacobs H., Krimpenfort P., Haks M., Allen J., Blom B., Demolliere C., Kruisbeek A., Spits H., Berns A. PIM1 reconstitutes thymus cellularity in interleukin 7- and common gamma chain-mutant mice and permits thymocyte maturation in rag- but not CD3gamma-deficient mice. J. Exp. Med. 190:1999;1059-1068.
11. Taylor N., Uribe L., Smith S., Jahn T., Kohn D. B., Weinberg K. Correction of interleukin-2 receptor function in X-SCID lymphoblastoid cells by retrovirally mediated transfer of the gamma-c gene. Blood. 87:1996;3103-3107.
12. Candotti F., Johnston J. A., Puck J. M., Sugamura K., O'Shea J. J., Blaese R. M. Retroviral-mediated gene correction for X-linked severe combined immunodeficiency. Blood. 87:1996;3097-3102.
13. Hacein-Bey H. gamma-c gene transfer into SCID X1 patients' B-cell lines restores normal high-affinity interleukin-2 receptor expression and function. Blood. 87:1996;3108-3116.
14. Cavazzana-Calvo M., Hacein-Bey S., de Saint Basile G., De Coene C., Selz F., Le Deist F., Fischer A. Role of interleukin-2 (IL-2), IL-7, and IL-15 in natural killer cell differentiation from cord blood hematopoietic progenitor cells and from gamma c transduced severe combined immunodeficiency X1 bone marrow cells. Blood. 88:1996;3901-3909.
15. Hacein-Bey S., Basile G. D., Lemerle J., Fischer A., Cavazzana-Calvo M. gammac gene transfer in the presence of stem cell factor, FLT-3L, interleukin-7 (IL-7), IL-1, and IL-15 cytokines restores T-cell differentiation from gammac(-) X-linked severe combined immunodeficiency hematopoietic progenitor cells in murine fetal thymic organ cultures. Blood. 92:1998;4090-4097.
16. Kumaki S., Kondo M., Takeshita T., Asao H., Nakamura M., Sugamura K. Cloning of the mouse interleukin 2 receptor gamma chain: Demonstration of functional differences between the mouse and human receptors. Biochem. Biophys. Res. Commun. 193:1993;356-363.
17. Markowitz D., Goff S., Bank A. Construction and use of a safe and efficient amphotropic packaging cell line. Virology. 167:1988;400-406.
18. Miller A. D., Buttimore C. Redesign of retrovirus packaging cell lines to avoid recombination leading to helper virus production. Mol. Cell. Biol. 6:1986;2895-2902.
19. Candotti F., Oakes S. A., Johnston J. A., Notarangelo L. D., O'Shea J. J., Blaese R. M. In vitro correction of JAK3-deficient severe combined immunodeficiency by retroviral-mediated gene transduction. J. Exp. Med. 183:1996;2687-2692.
20. Minami Y., Oishi I., Liu Z. J., Nakagawa S., Miyazaki T., Taniguchi T. Signal transduction mediated by the reconstituted IL-2 receptor. Evidence for a cell type-specific function of IL-2 receptor beta-chain. J. Immunol. 152:1994;5680-5690.
21. Wong H., Anderson W. D., Cheng T., Riabowol K. T. Monitoring mRNA expression by polymerase chain reaction: The "primer-dropping" method. Anal. Biochem. 223:1994;251-258.
22. Sorrentino B. P., Brandt S. J., Bodine D., Gottesman M., Pastan I., Cline A., Nienhuis A. W. Selection of drug-resistant bone marrow cells in vivo after retroviral transfer of human MDR1. Science. 257:1992;99-103.
23. Robbins P. B., Skelton D. C., Yu X. J., Halene S., Leonard E. H., Kohn D. B. Consistent, persistent expression from modified retroviral vectors in murine hematopoietic stem cells. Proc. Natl. Acad. Sci. USA. 95:1998;10182-10187.
24. Bordignon C. Gene therapy in peripheral blood lymphocytes and bone marrow for ADA-immunodeficient patients. Science. 270:1995;470-475.
25. Blaese R. M. T lymphocyte-directed gene therapy for ADA-SCID: Initial trial results after 4 years. Science. 270:1995;475-480.
26. Kohn D. B. T lymphocytes with a normal ADA gene accumulate after transplantation of transduced autologous umbilical cord blood CD34+ cells in ADA-deficient SCID neonates. Nat. Med. 4:1998;775-780.
27. Malech H. L. Prolonged production of NADPH oxidase-corrected granulocytes after gene therapy of chronic granulomatous disease. Proc. Natl. Acad. Sci. USA. 94:1997;12133-12138.
28. Mardiney M. III, Jackson S. H., Spratt S. K., Li F., Holland S. M., Malech H. L. Enhanced host defense after gene transfer in the murine p47phox-deficient model of chronic granulomatous disease. Blood. 89:1997;2268-2275.
29. Bjorgvinsdottir H., Ding C., Pech N., Gifford M. A., Li L. L., Dinauer M. C. 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. 89:1997;41-48.
30. Brown M. P. Thymic lymphoproliferative disease after successful correction of CD40 ligand deficiency by gene transfer in mice. Nat. Med. 4:1998;1253-1260.
31. Bunting K. D., Sangster M. Y., Ihle J. N., Sorrentino B. P. Restoration of lymphocyte function in Janus kinase 3-deficient mice by retroviral-mediated gene transfer. Nat. Med. 4:1998;58-64.
32. Conley M. E., Lavoie A., Briggs C., Brown P., Guerra C., Puck J. M. Nonrandom X chromosome inactivation in B cells from carriers of X chromosome-linked severe combined immunodeficiency. Proc. Natl. Acad. Sci. USA. 85:1988;3090-3094.
33. Wengler G. S., Allen R. C., Parolini O., Smith H., Conley M. E. Nonrandom X chromosome inactivation in natural killer cells from obligate carriers of X-linked severe combined immunodeficiency. J. Immunol. 150:1993;700-704.
34. Orlic D., Girard L. J., Lee D., Anderson S. M., Puck J. M., Bodine D. M. Interleukin-7R alpha mRNA expression increases as stem cells differentiate into T and B lymphocyte progenitors. Exp. Hematol. 25:1997;217-222.
35. Taniguchi T., Minami Y. The IL-2/IL-2 receptor system: A current overview. Cell. 73:1993;5-8.
36. Lo M., Bloom M. L., Imada K., Berg M., Bollenbacher J. M., Bloom E. T., Kelsall B. L., Leonard W. J. Restoration of lymphoid populations in a murine model of X-linked severe combined immunodeficiency by a gene-therapy approach. Blood. 94:1999;3027-3036.
37. Challita P. M., Skelton D., el-Khoueiry A., Yu X. J., Weinberg K., Kohn D. B. Multiple modifications in cis elements of the long terminal repeat of retroviral vectors lead to increased expression and decreased DNA methylation in embryonic carcinoma cells. J. Virol. 69:1995;748-755.