Gene Therapy in Infants with Severe Combined Immunodeficiency (original) (raw)

• Buckley RH. Primary immunodeficiency diseases due to defects in lymphocytes. N Engl J Med 2000; 343(18): 1313–24
  Article PubMed CAS Google Scholar
• 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(3): 378–87
  Article PubMed CAS Google Scholar
• Fischer A, Cavazzana-Calvo M, De Saint Basile G, et al. Naturally occurring primary deficiencies of the immune system. Annu Rev Immunol 1997; 15: 93–124
  Article PubMed CAS Google Scholar
• Bertrand Y, Landais P, Friedrich W, et al. Influence of severe combined immunodeficiency phenotype on the outcome of HLA non-identical, T-cell-depleted bone marrow transplantation: a retrospective European survey from the European Group for Bone Marrow Transplantation and the European Society for Immunodeficiency. J Pediatr 1999; 134(6): 740–8
  Article PubMed CAS Google Scholar
• 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(7): 508–16
  Article PubMed CAS Google Scholar
• van Leeuwen JE, van Tol MJ, Joosten AM, et al. Relationship between patterns of engraftment in peripheral blood and immune reconstitution after allogeneic bone marrow transplantation for (severe) combined immunodeficiency. Blood 1994; 84(11): 3936–47
  PubMed Google Scholar
• 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(10): 3646–53
  PubMed CAS Google Scholar
• Blazar BR, Taylor PA, McElmurry R, et al. Engraftment of severe combined immune deficient mice receiving allogeneic bone marrow via in utero or postnatal transfer. Blood 1998; 92(10): 3949–59
  PubMed CAS Google Scholar
• Hershfield MS. Immunodeficiency caused by adenosine deaminase deficiency. Immunol All Clin N Am 2000; 20(1): 161–75
  Article Google Scholar
• Hirschhorn R, Yang DR, Puck JM, et al. Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nat Genet 1996; 13(3): 290–5
  Article PubMed CAS Google Scholar
• 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(1): 274–8
  Article PubMed CAS Google Scholar
• Bordignon C, Notarangelo LD, Nobili N, et al. Gene therapy in peripheral blood lymphocytes and bone marrow for ADA-immunodeficient patients. Science 1995; 270(5235): 470–5
  Article PubMed CAS Google Scholar
• Blaese RM, Culver KW, Miller AD, et al. T lymphocyte-directed gene therapy for ADA-SCID: initial trial results after 4 years. Science 1995; 270(5235): 475–80
  Article PubMed CAS Google Scholar
• Kohn DB, Weinberg KI, Nolta JA, et al. Engraftment of gene-modified umbilical cord blood cells in neonates with adenosine deaminase deficiency. Nat Med 1995; 1(10): 1017–23
  Article PubMed CAS Google Scholar
• Hoogerbrugge PM, vanBeusechem VW, Fischer A, et al. Bone marrow gene transfer in three patients with adenosine deaminase deficiency. Gene Ther 1996; 3(2): 179–83
  PubMed CAS Google Scholar
• Onodera M, Ariga T, Kawamura N, et al. Successful peripheral T-lymphocyte-directed gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency. Blood 1998; 91(1): 30–6
  PubMed CAS Google Scholar
• Crooks GM, Kohn DB. Growth factors increase amphotropic retrovirus binding to human CD34+ bone marrow progenitor cells. Blood 1993; 82(11): 3290–7
  PubMed CAS Google Scholar
• Orlic D, Girard LJ, Jordan CT, et al. 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(20): 11097–102
  Article PubMed CAS Google Scholar
• Miller AD, Garcia JV, von Suhr N, et al. Construction and properties of retrovirus packaging cells based on gibbon ape leukemia virus. J Virol 1991; 65(5): 2220–4
  PubMed CAS Google Scholar
• Sabatino DE, Do BQ, Pyle LC, et al. Amphotropic or gibbon ape leukemia virus retrovirus binding and transduction correlates with the level of receptor mRNA in human hematopoietic cell lines. Blood Cells Mol Dis 1997; 23(3): 422–33
  Article PubMed CAS Google Scholar
• 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(11): 4638–45
  PubMed CAS Google Scholar
• Cosset FL, Takeuchi Y, Battini JL, et al. High-titer packaging cells producing recombinant retroviruses resistant to human serum. J Virol 1995; 69(12): 7430–6
  PubMed CAS Google Scholar
• Yang Y, Vanin EF, Whitt MA, et al. Inducible, high-level production of infectious murine leukemia retroviral vector particles pseudotyped with vesicular stomatitis virus G envelope protein. Hum Gene Ther 1995; 6(9): 1203–13
  Article PubMed CAS Google Scholar
• Ory DS, Neugeboren BA, Mulligan RC. A stable human-derived packaging cell line for production of high titer retrovirus/vesicular stomatitis virus G pseudotypes. Proc Natl Acad Sci U S A 1996; 93(21): 11400–6
  Article PubMed CAS Google Scholar
• Halene S, Kohn DB. Gene therapy using hematopoietic stem cells: Sisyphus approaches the crest. Hum Gene Ther 2000; 11(9): 1259–67
  Article PubMed CAS Google Scholar
• Naldini L, Blomer U, Gallay P, et al. In vivo gene delivery and stable transduction of nondividing cells by a lentiviral vector. Science 1996; 272(5259): 263–7
  Article PubMed CAS Google Scholar
• Vigna E, Naldini L. Lentiviral vectors: excellent tools for experimental gene transfer and promising candidates for gene therapy. J Gene Med 2000; 2(5): 308–16
  Article PubMed CAS Google Scholar
• Akkina RK, Walton RM, Chen ML, et al. High-efficiency gene transfer into CD34+ cells with a human immunodeficiency virus type 1-based retroviral vector pseudotyped with vesicular stomatitis virus envelope glycoprotein G. J Virol 1996; 70(4): 2581–5
  PubMed CAS Google Scholar
• Uchida N, Sutton RE, Friera AM, et al. HIV, but not murine leukemia virus, vectors mediate high efficiency gene transfer into freshly isolated G0/G1 human hematopoietic stem cells. Proc Natl Acad Sci U S A 1998; 95(20): 11939–44
  Article PubMed CAS Google Scholar
• Sutton RE, Wu HT, Rigg R, et al. Human immunodeficiency virus type 1 vectors efficiently transduce human hematopoietic stem cells. J Virol 1998; 72(7): 5781–8
  PubMed CAS Google Scholar
• Miyoshi H, Smith KA, Mosier DE, et al. Transduction of human CD34+ cells that mediate long-term engraftment of NOD/SCID mice by HIV vectors. Science 1999; 283(5402): 682–6
  Article PubMed CAS Google Scholar
• An DS, Wersto RP, Agricola BA, et al. Marking and gene expression by a lentivirus vector in transplanted human and nonhuman primate CD34 (+) cells. J Virol 2000; 74(3): 1286–95
  Article PubMed CAS Google Scholar
• Case SS, Price MA, Jordan CT, et al. Stable transduction of quiescent CD34(+) CD38(−) human hematopoietic cells by HIV-1-based lentiviral vectors. Proc Natl Acad Sci U S A 1999; 96(6): 2988–93
  Article PubMed CAS Google Scholar
• Guenechea G, Gan OI, Inamitsu T, et al. Transduction of human CD34+ CD38− bone marrow and cord blood-derived SCID-repopulating cells with thirdgeneration lentiviral vectors. Mol Ther 2000; 1(6): 566–73
  Article PubMed CAS Google Scholar
• Dull T, Zufferey R, Kelly M, et al. A third-generation lentivirus vector with a conditional packaging system. J Virol 1998; 72(11): 8463–71
  PubMed CAS Google Scholar
• Zufferey R, Dull T, Mandel RJ, et al. Self-inactivating lentivirus vector for safe and efficient in vivo gene delivery. J Virol 1998; 72(12): 9873–80
  PubMed CAS Google Scholar
• Miyoshi H, Blomer U, Takahashi M, et al. Development of a self-inactivating lentivirus vector. J Virol 1998; 72(10): 8150–7
  PubMed CAS Google Scholar
• Dao MA, Hannum CH, Kohn DB, et al. FLT3 ligand preserves the ability of human CD34+ progenitors to sustain long-term hematopoiesis in immunedeficient mice after ex vivo retroviral-mediated transduction. Blood 1997; 89(2): 446–56
  PubMed CAS Google Scholar
• Miller DG, Adam MA, Miller AD. Gene transfer by retrovirus vectors occurs only in cells that are actively replicating at the time of infection. Mol Cell Biol 1990; 10(8): 4239–42
  PubMed CAS Google Scholar
• Piacibello W, Sanavio F, Garetto L, et al. Extensive amplification and self-renewal of human primitive hematopoietic stem cells from cord blood. Blood 1997; 89(8): 2644–53
  PubMed CAS Google Scholar
• Kiem HP, Andrews RG, Morris J, et al. Improved gene transfer into baboon marrow repopulating cells using recombinant human fibronectin fragment CH-296 in combination with interleukin-6, stem cell factor, FLT-3 ligand, and megakaryocyte growth and development factor. Blood 1998; 92(6): 1878–86
  PubMed CAS Google Scholar
• 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(5): 817–25
  Article PubMed CAS Google Scholar
• Moritz T, Patel VP, Williams DA. Bone marrow extracellular matrix molecules improve gene transfer into human hematopoietic cells via retroviral vectors. J Clin Invest 1994; 93(4): 1451–7
  Article PubMed CAS Google Scholar
• Hanenberg H, Xiao XL, Dilloo D, et al. Colocalization of retrovirus and target cells on specific fibronectin fragments increases genetic transduction of mammalian cells. Nat Med 1996; 2(8): 876–82
  Article PubMed CAS Google Scholar
• Moritz T, Dutt P, Xiao X, et al. Fibronectin improves transduction of reconstituting hematopoietic stem cells by retroviral vectors: evidence of direct viral binding to chymotryptic carboxy-terminal fragments. Blood 1996; 88(3): 855–62
  PubMed CAS Google Scholar
• Hanenberg H, Hashino K, Konishi H, et al. Optimization of fibronectin-assisted retroviral gene transfer into human CD34+ hematopoietic cells. Hum Gene Ther 1997; 8(18): 2193–206
  Article PubMed CAS Google Scholar
• Dao MA, Hashino K, Kato I, et al. Adhesion to fibronectin maintains regenerative capacity during ex vivo culture and transduction of human hematopoietic stem and progenitor cells. Blood 1998; 92(12): 4612–21
  PubMed CAS Google Scholar
• Malech HL, Maples PB, Whiting-Theobald N, et al. Prolonged production of NADPH oxidase-corrected granulocytes after gene therapy of chronic granulomatous disease. Proc Natl Acad Sci U S A 1997; 94(22): 12133–8
  Article PubMed CAS Google Scholar
• 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: 669–72
  Article PubMed CAS Google Scholar
• Daddona PE, Kelley WN. Human adenosine deaminase. Purification and subunit structure. J Biol Chem 1977; 252(1): 110–5
  PubMed CAS Google Scholar
• Schrader WP, Stacy AR. Purification and subunit structure of adenosine deaminase from human kidney. J Biol Chem 1977; 252(18): 6409–15
  PubMed CAS Google Scholar
• Giblett ER, Anderson JE, Cohen F, et al. Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. Lancet 1972; II(7786): 1067–9
  Article Google Scholar
• Hirschhorn R. Overview of biochemical abnormalities and molecular genetics of adenosine deaminase deficiency. Pediatr Res 1993; 33 Suppl. 1: S35–41
  Article Google Scholar
• Markert ML. Molecular basis of adenosine deaminase deficiency. Immunodeficiency 1994; 5(2): 141–57
  PubMed CAS Google Scholar
• Hirschhorn R. Immunodeficiency disease due to deficiency of adenosine deaminase. In: Ochs HD, Edvard Smith CI, Puck JM, editors. Primary immunodeficiency diseases. New York: Oxford University Press, 1999: 121–39
  Google Scholar
• 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(4): 564–72
  Article PubMed CAS Google Scholar
• Migchielsen AA, Breuer ML, van Roon MA, et al. Adenosine-deaminase-deficient mice die perinatally and exhibit liver-cell degeneration, atelectasis and small intestinal cell death. Nat Genet 1995; 10(3): 279–87
  Article PubMed CAS Google Scholar
• Wakamiya M, Blackburn MR, Jurecic R, et al. Disruption of the adenosine deaminase gene causes hepatocellular impairment and perinatal lethality in mice. Proc Natl Acad Sci U S A 1995; 92(9): 3673–7
  Article PubMed CAS Google Scholar
• Blackburn MR, Aldrich M, Volmer JB, et al. The use of enzyme therapy to regulate the metabolic and phenotypic consequences of adenosine deaminase deficiency in mice: differential impact on pulmonary and immunologic abnormalities. J Biol Chem 2000; 275(41): 32114–21
  Article PubMed CAS Google Scholar
• Thompson LF, Van de Wiele CJ, Laurent AB, et al. Metabolites from apoptotic thymocytes inhibit thymopoiesis in adenosine deaminase-deficient fetal thymic organ cultures. J Clin Invest 2000; 106(9): 1149–57
  Article PubMed CAS Google Scholar
• Aiuti A, Slavin S, Aker M, et al. Correction of ASA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 2002; 296: 2410–3
  Article PubMed CAS Google Scholar
• 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(1): 147–57
  Article PubMed CAS Google Scholar
• Puck JM, Deschenes SM, Porter JC, al The interleukin-2 receptor gamma chain maps to Xql3.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum Mol Genet 1993; 2(8): 1099–104
  Article PubMed CAS Google Scholar
• Leonard WJ, Shores EW, Love PE. Role of the common cytokine receptor gamma chain in cytokine signaling and lymphoid development. Immunol Rev 1995; 148: 97–114
  Article PubMed CAS Google Scholar
• Sugamura K, Asao H, Kondo M, et al. The common gamma-chain for multiple cytokine receptors. Adv Immunol 1995; 59: 225–77
  Article PubMed CAS Google Scholar
• DiSanto JP, Kuhn R, Muller W. Common cytokine receptor gamma chain (gamma c)-dependent cytokines: understanding in vivo functions by gene targeting. Immunol Rev 1995; 148:19–34
  Article PubMed CAS Google Scholar
• Buckley RH. Advances in the understanding and treatment of human severe combined immunodeficiency. Immunol Res 2001; 22(2-3): 237–51
  Article Google Scholar
• Candotti F, Johnston JA, Puck JM, et al. Retroviral-mediated gene correction for X-linked severe combined immunodeficiency. Blood 1996; 87(8): 3097–102
  PubMed CAS Google Scholar
• Taylor N, Uribe L, Smith S, et al. Correction of interleukin-2 receptor function in X-SCID lymphoblastoid cells by retrovirally mediated transfer of the gamma-c gene. Blood 1996; 87(8): 3103–7
  PubMed CAS Google Scholar
• 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 interleukin-2 receptor expression and function. Blood 1996; 87(8): 3108–16
  PubMed CAS Google Scholar
• Cavazzana-Calvo M, Hacein-Bey S, de Saint Basile G, et al. 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 XI bone marrow cells. Blood 1996; 88(10): 3901–9
  PubMed CAS Google Scholar
• Hacein-Bey S, Basile GD, Lemerle J, et al. Gamma c 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 gamma c (−) X-linked severe combined immunodeficiency hematopoietic progenitor cells in murine fetal thymic organ cultures. Blood 1998; 92(11): 4090–7
  PubMed CAS Google Scholar
• DiSanto JP, Muller W, Guy-Grand D, et al. Lymphoid development in mice with a targeted deletion of the interleukin 2 receptor gamma chain. Proc Natl Acad Sci U S A 1995; 92(2): 377–81
  Article PubMed CAS Google Scholar
• Cao X, Shores EW, Hu-Li J, et al. Defective lymphoid development in mice lacking expression of the common cytokine receptor gamma chain. Immunity 1995; 2(3): 223–38
  Article PubMed CAS Google Scholar
• Ohbo K, Suda T, Hashiyama M, et al. Modulation of hematopoiesis in mice with a truncated mutant of the interleukin-2 receptor gamma chain. Blood 1996; 87(3): 956–67
  PubMed CAS Google Scholar
• Jacobs H, Krimpenfort P, Haks M, et al. 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 1999; 190(8): 1059–68
  Article PubMed CAS Google Scholar
• 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: 3027–36
  PubMed CAS Google Scholar
• Otsu M, Anderson S, Bodine D, et al. Lymphoid development and function in X-linked severe combined immunodeficiency mice after stem cell gene therapy. Mol Ther 2000; 1(2): 145–53
  Article PubMed CAS Google Scholar
• 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(10): 3071–7
  PubMed CAS Google Scholar
• Hacien-Bey-Abina S, LeDeist F, Carlier F, et al. Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N Engl J Med 2002; 346:1185–93
  Article Google Scholar
• Macchi P, Villa A, Gillani S, et al. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature 1995; 377(6544): 65–8
  Article PubMed CAS Google Scholar
• Russell SM, Tayebi N, Nakajima H, et al. Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. Science 1995; 270(5237): 797–800
  Article PubMed CAS Google Scholar
• Thomis DC, Gurniak CB, Tivol E, et al. Defects in B lymphocyte maturation and T lymphocyte activation in mice lacking Jak3. Science 1995; 270(5237): 794–7
  Article PubMed CAS Google Scholar
• Nosaka T, van Deursen JM, Tripp RA, et al. Defective lymphoid development in mice lacking Jak3. Science 1995; 270(5237): 800–2
  Article PubMed CAS Google Scholar
• Park SY, Saijo K, Takahashi T, et al. Developmental defects of lymphoid cells in Jak3 kinase-deficient mice. Immunity 1995; 3(6): 771–82
  Article PubMed CAS Google Scholar
• Candotti F, Oakes SA, Johnston JA, et al. In vitro correction of JAK3-deficient severe combined immunodeficiency by retroviral-mediated gene transduction. J Exp Med 1996; 183(6): 2687–92
  Article PubMed CAS Google Scholar
• Oakes SA, Candotti F, Johnston JA, et al. Signaling via IL-2 and IL-4 in JAK3-de-ficient severe combined immunodeficiency lymphocytes: JAK3-dependent and independent pathways. Immunity 1996; 5(6): 605–15
  Article PubMed CAS Google Scholar
• Bunting KD, Sangster MY, Ihle JN, et al. Restoration of lymphocyte function in Janus kinase 3-deficient mice by retroviral-mediated gene transfer. Nat Med 1998; 4(1): 58–64
  Article PubMed CAS Google Scholar
• Bunting KD, Lu T, Kelly PF, et al. Self-selection by genetically modified committed lymphocyte precursors reverses the phenotype of JAK3-deficient mice without myeloablation. Hum Gene Ther 2000; 11(17): 2353–64
  Article PubMed CAS Google Scholar
• Leonard WJ, O’Shea JJ. Jaks and STATs: biological implications. Annu Rev Immunol 1998; 16: 293–322
  Article PubMed CAS Google Scholar
• Puel A, Leonard WJ. Mutations in the gene for the IL-7 receptor result in T(−)B (+)NK(+) severe combined immunodeficiency disease. Curr Opin Immunol 2000; 12(4): 468–73
  Article PubMed CAS Google Scholar
• Puel A, Ziegler SF, Buckley RH, et al. Defective IL7R expression in T(−) B(+)NK(+) severe combined immunodeficiency. Nat Genet 1998; 20(4): 394–7
  Article PubMed CAS Google Scholar
• Roifman CM, Zhang J, Chitayat D, et al. A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency. Blood 2000; 96(8): 2803–7
  PubMed CAS Google Scholar
• vonFreeden-Jeffry U, Vieira P, Lucian LA, et al. Lymphopenia in interleukin (IL)-7 gene-deleted mice identifies IL-7 as a nonredundant cytokine. J Exp Med 1995; 181(4): 1519–26
  Article Google Scholar
• Peschon JJ, Morrissey PJ, Grabstein KH, et al. Early lymphocyte expansion is severely impaired in interleukin 7 receptor-deficient mice. J Exp Med 1994; 180(5): 1955–60
  Article PubMed CAS Google Scholar
• Schwarz K, Gauss GH, Ludwig L, et al. RAG mutations in human B cell-negative SCID. Science 1996; 274(5284): 97–9
  Article PubMed CAS Google Scholar
• Notarangelo LD, Villa A, Schwarz K. RAG and RAG defects. Curr Opin Immunol 1999; 11(4): 435–42
  Article PubMed CAS Google Scholar
• Willerford DM, Swat W, Alt FW. Developmental regulation of V (D)J recombination and lymphocyte differentiation. Curr Opin Genet Dev 1996; 6(5): 603–9
  Article PubMed CAS Google Scholar
• Hikida M, Mori M, Takai T, et al. Reexpression of RAG-1 and RAG-2 genes in activated mature mouse B cells. Science 1996; 274(5295): 2092–4
  Article PubMed CAS Google Scholar
• Han S, Zheng B, Schatz DG, et al. Neoteny in lymphocytes: Ragl and Rag2 expression in germinal center B cells. Science 1996; 274(5295): 2094–7
  Article PubMed CAS Google Scholar
• Shinkai Y, Rathbun G, Lam KP, et al. RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V (D)J rearrangement. Cell 1992; 68(5): 855–67
  Article PubMed CAS Google Scholar
• Mombaerts P, Iacomini J, Johnson RS, et al. RAG-1-deficient mice have no mature B and T lymphocytes. Cell 1992; 68(5): 869–77
  Article PubMed CAS Google Scholar
• Moshous D, Callebaut I, de Chasseval R, et al. Artemis, a novel DNA double-strand break repair/V (D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 2001; 105(2): 177–86
  Article PubMed CAS Google Scholar
• Cale CM, Klein NJ, Novelli V, et al. Severe combined immunodeficiency with abnormalities in expression of the common leucocyte antigen, CD45. Arch Dis Child 1997; 76(2): 163–4
  Article PubMed CAS Google Scholar
• Kung C, Pingel JT, Heikinheimo M, et al. Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. Nat Med 2000; 6(3): 343–5
  Article PubMed CAS Google Scholar
• Elder ME, Lin D, Clever J, et al. Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase. Science 1994; 264(5165): 1596–9
  Article PubMed CAS Google Scholar
• Arpaia E, Shahar M, Dadi H, et al. Defective T cell receptor signaling and CD8+ thymic selection in humans lacking zap-70 kinase. Cell 1994; 76(5): 947–58
  Article PubMed CAS Google Scholar
• Taylor N, Bacon KB, Smith S, et al. Reconstitution of T cell receptor signaling in ZAP-70-deficient cells by retroviral transduction of the ZAP-70 gene. J Exp Med 1996; 184(5): 2031–6
  Article PubMed CAS Google Scholar
• Steinberg M, Swainson L, Schwarz K, et al. Retrovirus-mediated transduction of primary ZAP-70-deficient human T cells results in the selective growth advantage of gene-corrected cells: implications for gene therapy. Gene Ther 2000; 7(16): 1392–400
  Article PubMed CAS Google Scholar
• Puck JM, Pepper AE, Henthorn PS, et al. Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. Blood 1997; 89(6): 1968–77
  PubMed CAS Google Scholar
• Kawahara A, Minami Y, Taniguchi T. Evidence for a critical role for the cytoplasmic region of the interleukin 2 (IL-2) receptor gamma chain in IL-2, IL-4, and IL-7 signalling. Mol Cell Biol 1994; 14(8): 5433–40
  PubMed CAS Google Scholar
• Otsu M, Sugamura K, Candotti F. Lack of dominant-negative effects of a truncated gamma(c) on retroviral-mediated gene correction of immunodeficient mice. Blood 2001; 97(6): 1618–24
  Article PubMed CAS Google Scholar
• Otsu M, Sugamura K, Candotti F. In vivo competitive studies between normal and common gamma chain-defective bone marrow cells: implications for gene therapy. Hum Gene Ther 2000; 11(14): 2051–6
  Article PubMed CAS Google Scholar
• Conley ME, Lavoie A, Briggs C, et al. Nonrandom X chromosome inactivation in B cells from carriers of X chromosome-linked severe combined immunodeficiency. Proc Natl Acad Sci U S A 1988; 85(9): 3090–4
  Article PubMed CAS Google Scholar