Retroviral transduction of IL2RG into CD34+ cells from X-linked severe combined immunodeficiency patients permits human T- and B-cell development in sheep chimeras

Blood

Volumn 100, Issue 1, 2002, Pages 72-79

  Tsai, Emily J ^a,b,c,d   Malech, Harry L ^a,b,c,d   Kirby, Martha R ^a,b,c,d   Hsu, Amy P ^a,b,c,d   Seidel, Nancy E ^a,b,c,d   Porada, Christopher D ^a,b,c,d   Zanjani, Esmail D ^a,b,c,d   Bodine, David M ^a,b,c,d   Puck, Jennifer M ^a,b,c,d  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^d UNIVERSITY OF NEVADA SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CD34 ANTIGEN; DNA; INTERLEUKIN 2 RECEPTOR;

ANIMAL EXPERIMENT; ARTICLE; BONE MARROW TRANSPLANTATION; CASE REPORT; CELL LINE; CELL MATURATION; CHIMERA; COMBINED IMMUNODEFICIENCY; GENE TRANSFER; GENETIC TRANSDUCTION; HUMAN; HUMAN CELL; LYMPHOCYTE; LYMPHOCYTE FUNCTION; NONHUMAN; PRIORITY JOURNAL; RETROVIRUS; SHEEP;

EID: 0036660166     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.V100.1.72     Document Type: Article

References (55)

1. Noguchi M, Yi H, Rosenblatt HM, et al. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell. 1993;73:147-157.
2. Puck JM, Deschenes SM, Porter JC, et al. The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum Mol Genet. 1993;2:1099-1104.
3. Asao H, Okuyama C, Kumaki S, et al. Cutting edge: the common gamma-chain is an indispensable subunit of the IL-21 receptor complex. J Immunol. 2001;167:1-5
4. Leonard WJ. The molecular basis of X-linked severe combined immunodeficiency: defective cytokine receptor signaling. Annu Rev Med. 1996;47:229-239.
5. Sugamura K, Asao H, Kondo M, et al. The interleukin-2 receptor gamma chain: its role in the multiple cytokine receptor complexes and T cell development in XSCID. Annu Rev Immunol. 1996;14:179-205.
6. Puck JM, Pepper AE, Henthorn PS, et al. Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. Blood. 1997;89:1968-1977.
7. Buckley RH, Schiff RI, Schiff SE, et al. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr. 1997;130:378-387.
8. Buckley RH, Schiff SE, Schiff RI, et al. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med. 1999;340:508-516.
9. Haddad E, Landais P, Friedrich W, et al. 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. 1998;91:3646-3653.
10. Haddad E, LeDeist F, Aucouturier P, et al. Long-term chimerism and B-cell function after bone marrow transplantation in patients with severe combined immunodeficiency with B cells: a single-center study of 22 patients. Blood. 1999;94:2923-2930.
11. Puck JM, Nussbaum RL, Conley ME. Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation. J Clin Invest. 1987;79:1395-1400.
12. Bousso P, Wahn V, Douagi I, et al. Diversity, functionality, and stability of the T cell repertoire derived in vivo from a single human T cell precursor. Proc Natl Acad Sci U S A. 2000;97:274-278.
13. Ishii N, Takeshita T, Kimura Y, et al. Expression of the IL-2 receptor gamma chain on various populations in human peripheral blood. Int Immunol. 1994;6:1273-1277.
14. Orlic D, Girard LJ, Lee D, Anderson SM, Puck JM, Bodine DM. Interleukin-7R alpha mRNA expression increases as stem cells differentiate into T and B lymphocyte progenitors. Exp Hematol. 1997;25:217-222.
15. Candotti F, Johnston JA, Puck JM, Sugamura K, O'Shea JJ, Blaese RM. Retroviral-mediated gene correction for X-linked severe combined immunodeficiency. Blood. 1996;87:3097-3102.
16. Taylor N, Uribe L, Smith S, Jahn T, Kohn DB, Weinberg K. Correction of interleukin-2 receptor function in X-SCID lymphoblastoid cells by retrovirally mediated transfer of the gamma-c gene. Blood. 1996;87:3103-3107.
17. Hacein-Bey H, Cavazzana-Calvo M, Le Deist F, et al. gamma-c gene transfer into SCID X1 patients' B-cell lines restores normal high-affinity interieukin-2 receptor expression and function. Blood. 1996;87:3108-3116.
18. Lo M, Bloom ML, Imada K, et al. Restoration of lymphoid populations in a murine model of X-linked severe combined immunodeficiency by a gene-therapy approach. Blood. 1999;94:3027-3036.
19. Soudais C, Shiho T, Sharara LI, et al. Stable and functional lymphoid reconstitution of common cytokine receptor gamma chain deficient mice by retroviral-mediated gene transfer. Blood. 2000;95:3071-3077.
20. Aviles Mendoza GJ, Seidel NE, Otsu M, et al. Comparison of five retrovirus vectors containing the human IL-2 receptor gamma chain gene for their ability to restore T and B lymphocytes in the X-linked severe combined immunodeficiency mouse model. Mol Ther. 2001;3:565-573.
21. Whitwam T, Haskins ME, Henthorn PS, et al. Retroviral marking of canine bone marrow: long-term, high-level expression of human interleukin-2 receptor common gamma chain in canine lymphocytes. Blood. 1998;92:1565-1575.
22. Cavazzana-Calvo M, Hacein-Bey S, de Saint Basile G, et al. Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science. 2000;288:669-672.
23. Hacein-Bey-Albina S, LeDeist F, Carlier F, et al. Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. New Engl J Med. 2002;346:1241-1243.
24. Kurre P, Kiem HP, Morris J, Heyward S, Battini JL, Miller AD. Efficient transduction by an amphotropic retrovirus vector is dependent on high-level expression of the cell surface virus receptor. J Virol. 1999;73:495-500.
25. Orlic D, Girard LJ, Anderson SM, et al. Identification of human and mouse hematopoietic stem cell populations expressing high levels of mRNA encoding retrovirus receptors. Blood. 1998;91:3247-3254.
26. Orlic D, Girard LJ, Jordan CT, Anderson SM, Cline AP, Bodine DM. The level of mRNA encoding the amphotropic retrovirus receptor in mouse and human hematopoietic stem cells is low and correlates with the efficiency of retrovirus transduction. Proc Natl Acad Sci U S A. 1996;93:11097-11102.
27. Kavanaugh MP, Miller DG, Zhang W, et al. Cell-surface receptors for gibbon ape leukemia virus and amphotropic murine retrovirus are inducible sodium-dependent phosphate symporters. Proc Natl Acad Sci U S A. 1994;91:7071-7075
28. Miller DG, Edwards RH, Miller AD. Cloning of the cellular receptor for amphotropic murine retroviruses reveals homology to that for gibbon ape leukemia virus. Proc Natl Acad Sci U S A. 1994;91:78-82.
29. van Zeijl M, Johann SV, Closs E, et al. A human amphotropic retrovirus receptor is a second member of the gibbon ape leukemia virus receptor family. Proc Natl Acad Sci U S A. 1994;91:1168-1172.
30. Bauer TR Jr, Miller AD, Hickstein DD. Improved transfer of the leukocyte integrin CD18 subunit into hematopoietic cell lines by using retroviral vectors having a gibbon ape leukemia virus envelope. Blood. 1995;86:2379-2387.
31. Porter CD, Collins MK, Tailor CS, et al. Comparison of efficiency of infection of human gene therapy target cells via four different retroviral receptors. Hum Gene Ther. 1996;7:913-919.
32. van Hennik PB, Verstegen MM, Bierhuizen MF, et al. Highly efficient transduction of the green fluorescent protein gene in human umbilical cord blood stem cells capable of cobblestone formation in long-term cultures and multilineage engraftment of immunodeficient mice. Blood. 1998;92:4013-4022.
33. Marandin A, Dubart A, Pflumio F, et al. Retrovirus-mediated gene transfer into human CD34+38low primitive cells capable of reconstituting long-term cultures in vitro and nonobese diabetic-severe combined immunodeficiency mice in vivo. Hum Gene Ther. 1998;9:1497-1511.
34. Rasko JE, Battini JL, Gottschalk RJ, Mazo I, Miller AD. The RD114/simian type D retrovirus receptor is a neutral amino acid transporter. Proc Natl Acad Sci U S A. 1999;96:2129-2134.
35. Kelly PF, Vandergriff J, Nathwani A, Nienhuis AW, Vanin EF. Highly efficient gene transfer into cord blood nonobese diabetic/severe combined immunodeficiency repopulating cells by oncoretroviral vector particles pseudotyped with the feline endogenous retrovirus (RD114) envelope protein. Blood. 2000;96:1206-1214.
36. Kiem HP, Heyward S, Winkler A, et al. Gene transfer into marrow repopulating cells: comparison between amphotropic and gibbon ape leukemia virus pseudotyped retroviral vectors in a competitive repopulation assay in baboons. Blood. 1997;90:4638-4645.
37. Orlic D, Girard LJ, Anderson SM, Bodine DM. Retrovirus receptor mRNA expression correlates with gene transfer efficiency in pluripotent hematopoietic stem cells. Leukemia. 1999;13(suppl 1):S52-S54.
38. Schilz AJ, Brouns G, Knoss H, et al. High efficiency gene transfer to human hematopoietic SCID-repopulating cells under serum-free conditions. Blood. 1998;92:3163-3171.
39. Hennemann B, Conneally E, Pawliuk R, et al. Optimization of retroviral-mediated gene transfer to human NOD/SCID mouse repopulating cord blood cells through a systematic analysis of protocol variables. Exp Hematol. 1999;27:817-825.
40. Conneally E, Eaves CJ, Humphries RK. Efficient retroviral-mediated gene transfer to human cord blood stem cells with in vivo repopulating potential. Blood. 1998;91:3487-3493.
41. Demaison C, Brouns G, Blundell MP, et al. A defined window for efficient gene marking of severe combined immunodeficient-repopulating cells using a gibbon ape leukemia virus-pseudotyped retroviral vector. Hum Gene Ther. 2000;11:91-100.
42. Horwitz ME, Malech HL, Anderson SM, Girard LJ, Bodine DM, Orlic D. Granulocyte colony-stimulating factor mobilized peripheral blood stem cells enter into G1 of the cell cycle and express higher levels of amphotropic retrovirus receptor mRNA. Exp Hematol. 1999;27:1160-1167.
43. Thiede C, Florek M, Bornhauser M, et al. Rapid quantification of mixed chimerism using multiplex amplification of short tandem repeat markers and fluorescence detection. Bone Marrow Transplant. 1999;23:1055-1060.
44. Miller AD, Garcia JV, von Suhr N, Lynch CM, Wilson C, Eiden MV. Construction and properties of retrovirus packaging cells based on gibbon ape leukemia virus. J Virol. 1991;65:2220-2224.
45. Mardiney M 3rd, Jackson SH, Spratt SK, Li F, Holland SM, Malech HL. Enhanced host defense after gene transfer in the murine p47phox-deficient model of chronic granulomatous disease. Blood. 1997;89:2268-2275.
46. Shimizu Y, Ogawa M, Kobayashi M, Almeida-Porada G, Zanjani ED. Engraftment of cultured human hematopoietic cells in sheep. Blood. 1998;91:3688-3692.
47. Gatti RA, Meuwissen HJ, Allen HD, Hong R, Good RA. Immunological reconstitution of sex-linked lymphopenic immunological deficiency. Lancet. 1968;2:1366-1369.
48. Stephan JL, Vlekova V, Le Deist F, et al. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J Pediatr. 1993;123:564-572.
49. Myers LA, Patel DD, Puck JM, Buckley RH. Hematopoietic stem cell transplantation for SCID in the neonatal period leads to superior thymic output and improved survival. Blood. 2001;99:872-878.
50. Wang JC, Doedens M, Dick JE. Primitive human hematopoietic cells are enriched in cord blood compared with adult bone marrow or mobilized peripheral blood as measured by the quantitative in vivo SCID-repopulating cell assay. Blood. 1997;89:3919-3924.
51. Hao QL, Shah AJ, Thiemann FT, Smogorzewska EM, Crooks GM. A functional comparison of CD34 + CD38 - cells in cord blood and bone marrow. Blood. 1995;86:3745-3753.
52. De Bruyn C, Delforge A, Bron D, et al. Comparison of the coexpression of CD38, CD33 and HLA-DR antigens on CD34+ purified cells from human cord blood and bone marrow. Stem Cells. 1995;13:281-288.
53. Weekx SF, Van Bockstaele DR, Plum J, et al. CD34+ + CD38- and CD34+ CD38+ human hematopoietic progenitors from fetal liver, cord blood, and adult bone marrow respond differently to hematopoietic cytokines depending on the ontogenic source. Exp Hematol. 1998;26:1034-1042.
54. Puck JM, Middelton L, Pepper AE. Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization. Hum Genet. 1997;99:628-633.
55. Niemela JE, Puck JM, Fischer RE, Fleisher TA, Hsu AP. Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. Clin Immunol. 2000;95:33-38.