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Volumn 133, Issue 4, 2014, Pages 1116-1123

Recombination-activating gene 1 (Rag1)-deficient mice with severe combined immunodeficiency treated with lentiviral gene therapy demonstrate autoimmune Omenn-like syndrome

(19)  Van Til, Niek P a   Sarwari, Roya a   Visser, Trudi P a   Hauer, Julia b,c   Lagresle Peyrou, Chantal b   Van Der Velden, Guus a   Malshetty, Vidyasagar d   Cortes, Patricia d   Jollet, Arnaud e   Danos, Olivier e   Cassani, Barbara f,g   Zhang, Fang h   Thrasher, Adrian J h   Fontana, Elena i   Poliani, Pietro L i   Cavazzana, Marina b,e   Verstegen, Monique M A a   Villa, Anna f,j   Wagemaker, Gerard a  

b INSERM   (France)
f CNR   (Italy)

Author keywords

autoimmune reactions; lentiviral gene therapy; Severe combined immunodeficiency

Indexed keywords

B CELL ACTIVATING FACTOR; CD11B ANTIGEN; CD19 ANTIGEN; CD3 ANTIGEN; CD4 ANTIGEN; CD45 ANTIGEN; CD8 ANTIGEN; DOUBLE STRANDED DNA ANTIBODY; HERMES ANTIGEN; IMMUNOGLOBULIN D ANTIBODY; IMMUNOGLOBULIN E ANTIBODY; IMMUNOGLOBULIN M ANTIBODY; LENTIVIRUS VECTOR; MESSENGER RNA; RAG1 PROTEIN; RAG2 PROTEIN; TRANSCRIPTION FACTOR FOXP3;

EID: 84897389322     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2013.10.009     Document Type: Article
Times cited : (57)

References (41)
  • 1
    • 0020534965 scopus 로고
    • Somatic generation of antibody diversity
    • S. Tonegawa Somatic generation of antibody diversity Nature 302 1983 575 581
    • (1983) Nature , vol.302 , pp. 575-581
    • Tonegawa, S.1
  • 2
    • 80255127503 scopus 로고    scopus 로고
    • Omenn syndrome does not live by V(D)J recombination alone
    • V. Marrella, V. Maina, and A. Villa Omenn syndrome does not live by V(D)J recombination alone Curr Opin Allergy Clin Immunol 11 2011 525 531
    • (2011) Curr Opin Allergy Clin Immunol , vol.11 , pp. 525-531
    • Marrella, V.1    Maina, V.2    Villa, A.3
  • 3
    • 73949133111 scopus 로고    scopus 로고
    • Long-term clinical outcome of patients with severe combined immunodeficiency who received related donor bone marrow transplants without pretransplant chemotherapy or post-transplant GVHD prophylaxis
    • M.D. Railey, Y. Lokhnygina, and R.H. Buckley Long-term clinical outcome of patients with severe combined immunodeficiency who received related donor bone marrow transplants without pretransplant chemotherapy or post-transplant GVHD prophylaxis J Pediatr 155 2009 834 840.e1
    • (2009) J Pediatr , vol.155
    • Railey, M.D.1    Lokhnygina, Y.2    Buckley, R.H.3
  • 4
    • 0033580206 scopus 로고    scopus 로고
    • Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency
    • R.H. Buckley, S.E. Schiff, R.I. Schiff, L. Markert, L.W. Williams, and J.L. Roberts et al. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency N Engl J Med 340 1999 508 516
    • (1999) N Engl J Med , vol.340 , pp. 508-516
    • Buckley, R.H.1    Schiff, S.E.2    Schiff, R.I.3    Markert, L.4    Williams, L.W.5    Roberts, J.L.6
  • 6
    • 84864875026 scopus 로고    scopus 로고
    • Critical variables affecting clinical-grade production of the self-inactivating gamma-retroviral vector for the treatment of X-linked severe combined immunodeficiency
    • J.C. van der Loo, W.P. Swaney, E. Grassman, A. Terwilliger, T. Higashimoto, and A. Schambach et al. Critical variables affecting clinical-grade production of the self-inactivating gamma-retroviral vector for the treatment of X-linked severe combined immunodeficiency Gene Ther 19 2012 872 876
    • (2012) Gene Ther , vol.19 , pp. 872-876
    • Van Der Loo, J.C.1    Swaney, W.P.2    Grassman, E.3    Terwilliger, A.4    Higashimoto, T.5    Schambach, A.6
  • 7
    • 70449427834 scopus 로고    scopus 로고
    • Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy
    • N. Cartier, S. Hacein-Bey-Abina, C.C. Bartholomae, G. Veres, M. Schmidt, and I. Kutschera et al. Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy Science 326 2009 818 823
    • (2009) Science , vol.326 , pp. 818-823
    • Cartier, N.1    Hacein-Bey-Abina, S.2    Bartholomae, C.C.3    Veres, G.4    Schmidt, M.5    Kutschera, I.6
  • 8
    • 77956928344 scopus 로고    scopus 로고
    • Transfusion independence and HMGA2 activation after gene therapy of human beta-thalassaemia
    • M. Cavazzana-Calvo, E. Payen, O. Negre, G. Wang, K. Hehir, and F. Fusil et al. Transfusion independence and HMGA2 activation after gene therapy of human beta-thalassaemia Nature 467 2010 318 322
    • (2010) Nature , vol.467 , pp. 318-322
    • Cavazzana-Calvo, M.1    Payen, E.2    Negre, O.3    Wang, G.4    Hehir, K.5    Fusil, F.6
  • 9
    • 84879867061 scopus 로고    scopus 로고
    • Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome
    • A. Aiuti, L. Biasco, S. Scaramuzza, F. Ferrua, M.P. Cicalese, and C. Baricordi et al. Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome Science 341 2013 1233151
    • (2013) Science , vol.341 , pp. 1233151
    • Aiuti, A.1    Biasco, L.2    Scaramuzza, S.3    Ferrua, F.4    Cicalese, M.P.5    Baricordi, C.6
  • 10
    • 84879873039 scopus 로고    scopus 로고
    • Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy
    • A. Biffi, E. Montini, L. Lorioli, M. Cesani, F. Fumagalli, and T. Plati et al. Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy Science 341 2013 1233158
    • (2013) Science , vol.341 , pp. 1233158
    • Biffi, A.1    Montini, E.2    Lorioli, L.3    Cesani, M.4    Fumagalli, F.5    Plati, T.6
  • 11
    • 0031710033 scopus 로고    scopus 로고
    • A third-generation lentivirus vector with a conditional packaging system
    • T. Dull, R. Zufferey, M. Kelly, R.J. Mandel, M. Nguyen, and D. Trono et al. A third-generation lentivirus vector with a conditional packaging system J Virol 72 1998 8463 8471
    • (1998) J Virol , vol.72 , pp. 8463-8471
    • Dull, T.1    Zufferey, R.2    Kelly, M.3    Mandel, R.J.4    Nguyen, M.5    Trono, D.6
  • 12
    • 0031743608 scopus 로고    scopus 로고
    • Self-inactivating lentivirus vector for safe and efficient in vivo gene delivery
    • R. Zufferey, T. Dull, R.J. Mandel, A. Bukovsky, D. Quiroz, and L. Naldini et al. Self-inactivating lentivirus vector for safe and efficient in vivo gene delivery J Virol 72 1998 9873 9880
    • (1998) J Virol , vol.72 , pp. 9873-9880
    • Zufferey, R.1    Dull, T.2    Mandel, R.J.3    Bukovsky, A.4    Quiroz, D.5    Naldini, L.6
  • 13
    • 84860555634 scopus 로고    scopus 로고
    • Whole transcriptome characterization of aberrant splicing events induced by lentiviral vector integrations
    • D. Cesana, J. Sgualdino, L. Rudilosso, S. Merella, L. Naldini, and E. Montini Whole transcriptome characterization of aberrant splicing events induced by lentiviral vector integrations J Clin Invest 122 2012 1667 1676
    • (2012) J Clin Invest , vol.122 , pp. 1667-1676
    • Cesana, D.1    Sgualdino, J.2    Rudilosso, L.3    Merella, S.4    Naldini, L.5    Montini, E.6
  • 14
    • 30144444329 scopus 로고    scopus 로고
    • Long-term immune reconstitution in RAG-1-deficient mice treated by retroviral gene therapy: A balance between efficiency and toxicity
    • C. Lagresle-Peyrou, F. Yates, M. Malassis-Seris, C. Hue, E. Morillon, and A. Garrigue et al. Long-term immune reconstitution in RAG-1-deficient mice treated by retroviral gene therapy: a balance between efficiency and toxicity Blood 107 2006 63 72
    • (2006) Blood , vol.107 , pp. 63-72
    • Lagresle-Peyrou, C.1    Yates, F.2    Malassis-Seris, M.3    Hue, C.4    Morillon, E.5    Garrigue, A.6
  • 15
    • 38649123723 scopus 로고    scopus 로고
    • Restoration of human B-cell differentiation into NOD-SCID mice engrafted with gene-corrected CD34+ cells isolated from Artemis or RAG1-deficient patients
    • C. Lagresle-Peyrou, F. Benjelloun, C. Hue, I. Andre-Schmutz, D. Bonhomme, and M. Forveille et al. Restoration of human B-cell differentiation into NOD-SCID mice engrafted with gene-corrected CD34+ cells isolated from Artemis or RAG1-deficient patients Mol Ther 16 2008 396 403
    • (2008) Mol Ther , vol.16 , pp. 396-403
    • Lagresle-Peyrou, C.1    Benjelloun, F.2    Hue, C.3    Andre-Schmutz, I.4    Bonhomme, D.5    Forveille, M.6
  • 16
    • 80052495904 scopus 로고    scopus 로고
    • Correction of murine Rag1 deficiency by self-inactivating lentiviral vector-mediated gene transfer
    • K. Pike-Overzet, M. Rodijk, Y.Y. Ng, M.R. Baert, C. Lagresle-Peyrou, and A. Schambach et al. Correction of murine Rag1 deficiency by self-inactivating lentiviral vector-mediated gene transfer Leukemia 25 2011 1471 1483
    • (2011) Leukemia , vol.25 , pp. 1471-1483
    • Pike-Overzet, K.1    Rodijk, M.2    Ng, Y.Y.3    Baert, M.R.4    Lagresle-Peyrou, C.5    Schambach, A.6
  • 18
    • 84867013112 scopus 로고    scopus 로고
    • Correction of murine Rag2 severe combined immunodeficiency by lentiviral gene therapy using a codon-optimized RAG2 therapeutic transgene
    • N.P. van Til, H. de Boer, N. Mashamba, A. Wabik, M. Huston, and T.P. Visser et al. Correction of murine Rag2 severe combined immunodeficiency by lentiviral gene therapy using a codon-optimized RAG2 therapeutic transgene Mol Ther 20 2012 1968 1980
    • (2012) Mol Ther , vol.20 , pp. 1968-1980
    • Van Til, N.P.1    De Boer, H.2    Mashamba, N.3    Wabik, A.4    Huston, M.5    Visser, T.P.6
  • 19
    • 80053568178 scopus 로고    scopus 로고
    • Correction of murine X-linked SCID by lentiviral gene therapy using a codon-optimized IL2RG gene and minimal pretransplant conditioning
    • M.W. Huston, N.P. van Til, T.P. Visser, S. Arshad, M.H. Brugman, and C. Cattoglio et al. Correction of murine X-linked SCID by lentiviral gene therapy using a codon-optimized IL2RG gene and minimal pretransplant conditioning Mol Ther 19 2011 1867 1877
    • (2011) Mol Ther , vol.19 , pp. 1867-1877
    • Huston, M.W.1    Van Til, N.P.2    Visser, T.P.3    Arshad, S.4    Brugman, M.H.5    Cattoglio, C.6
  • 20
    • 10944244780 scopus 로고    scopus 로고
    • Kupffer cells and not liver sinusoidal endothelial cells prevent lentiviral transduction of hepatocytes
    • N.P. van Til, D.M. Markusic, R. van der Rijt, C. Kunne, J.K. Hiralall, and H. Vreeling et al. Kupffer cells and not liver sinusoidal endothelial cells prevent lentiviral transduction of hepatocytes Mol Ther 11 2005 26 34
    • (2005) Mol Ther , vol.11 , pp. 26-34
    • Van Til, N.P.1    Markusic, D.M.2    Van Der Rijt, R.3    Kunne, C.4    Hiralall, J.K.5    Vreeling, H.6
  • 21
    • 77955886412 scopus 로고    scopus 로고
    • Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype
    • N.P. van Til, M. Stok, F.S. Aerts Kaya, M.C. de Waard, E. Farahbakhshian, and T.P. Visser et al. Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype Blood 115 2010 5329 5337
    • (2010) Blood , vol.115 , pp. 5329-5337
    • Van Til, N.P.1    Stok, M.2    Aerts Kaya, F.S.3    De Waard, M.C.4    Farahbakhshian, E.5    Visser, T.P.6
  • 22
    • 0035161258 scopus 로고    scopus 로고
    • V(D)J recombination defects in lymphocytes due to RAG mutations: Severe immunodeficiency with a spectrum of clinical presentations
    • A. Villa, C. Sobacchi, L.D. Notarangelo, F. Bozzi, M. Abinun, and T.G. Abrahamsen et al. V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations Blood 97 2001 81 88
    • (2001) Blood , vol.97 , pp. 81-88
    • Villa, A.1    Sobacchi, C.2    Notarangelo, L.D.3    Bozzi, F.4    Abinun, M.5    Abrahamsen, T.G.6
  • 23
    • 63849240530 scopus 로고    scopus 로고
    • Leaky severe combined immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation
    • W. Giblin, M. Chatterji, G. Westfield, T. Masud, B. Theisen, and H.L. Cheng et al. Leaky severe combined immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation Blood 113 2009 2965 2975
    • (2009) Blood , vol.113 , pp. 2965-2975
    • Giblin, W.1    Chatterji, M.2    Westfield, G.3    Masud, T.4    Theisen, B.5    Cheng, H.L.6
  • 24
    • 77954408510 scopus 로고    scopus 로고
    • Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency
    • J.E. Walter, F. Rucci, L. Patrizi, M. Recher, S. Regenass, and T. Paganini et al. Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency J Exp Med 207 2010 1541 1554
    • (2010) J Exp Med , vol.207 , pp. 1541-1554
    • Walter, J.E.1    Rucci, F.2    Patrizi, L.3    Recher, M.4    Regenass, S.5    Paganini, T.6
  • 27
    • 84870299526 scopus 로고    scopus 로고
    • A novel homogenous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome
    • J. Chou, R. Hanna-Wakim, I. Tirosh, J. Kane, D. Fraulino, and Y.N. Lee et al. A novel homogenous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome J Allergy Clin Immunol 130 2012 1414 1416
    • (2012) J Allergy Clin Immunol , vol.130 , pp. 1414-1416
    • Chou, J.1    Hanna-Wakim, R.2    Tirosh, I.3    Kane, J.4    Fraulino, D.5    Lee, Y.N.6
  • 29
    • 0033549813 scopus 로고    scopus 로고
    • Continued RAG expression in late stages of B cell development and no apparent re-induction after immunization
    • W. Yu, H. Nagaoka, M. Jankovic, Z. Misulovin, H. Suh, and A. Rolink et al. Continued RAG expression in late stages of B cell development and no apparent re-induction after immunization Nature 400 1999 682 687
    • (1999) Nature , vol.400 , pp. 682-687
    • Yu, W.1    Nagaoka, H.2    Jankovic, M.3    Misulovin, Z.4    Suh, H.5    Rolink, A.6
  • 30
    • 0038783576 scopus 로고    scopus 로고
    • A conserved transcriptional enhancer regulates RAG gene expression in developing B cells
    • L.Y. Hsu, J. Lauring, H.E. Liang, S. Greenbaum, D. Cado, and Y. Zhuang et al. A conserved transcriptional enhancer regulates RAG gene expression in developing B cells Immunity 19 2003 105 117
    • (2003) Immunity , vol.19 , pp. 105-117
    • Hsu, L.Y.1    Lauring, J.2    Liang, H.E.3    Greenbaum, S.4    Cado, D.5    Zhuang, Y.6
  • 31
    • 0033551866 scopus 로고    scopus 로고
    • Coordinate regulation of RAG1 and RAG2 by cell type-specific DNA elements 5' of RAG2
    • W. Yu, Z. Misulovin, H. Suh, R.R. Hardy, M. Jankovic, and N. Yannoutsos et al. Coordinate regulation of RAG1 and RAG2 by cell type-specific DNA elements 5' of RAG2 Science 285 1999 1080 1084
    • (1999) Science , vol.285 , pp. 1080-1084
    • Yu, W.1    Misulovin, Z.2    Suh, H.3    Hardy, R.R.4    Jankovic, M.5    Yannoutsos, N.6
  • 32
    • 2942564990 scopus 로고    scopus 로고
    • A cis element in the recombination activating gene locus regulates gene expression by counteracting a distant silencer
    • N. Yannoutsos, V. Barreto, Z. Misulovin, A. Gazumyan, W. Yu, and N. Rajewsky et al. A cis element in the recombination activating gene locus regulates gene expression by counteracting a distant silencer Nat Immunol 5 2004 443 450
    • (2004) Nat Immunol , vol.5 , pp. 443-450
    • Yannoutsos, N.1    Barreto, V.2    Misulovin, Z.3    Gazumyan, A.4    Yu, W.5    Rajewsky, N.6
  • 33
    • 79952184079 scopus 로고    scopus 로고
    • Development of B-lineage predominant lentiviral vectors for use in genetic therapies for B cell disorders
    • B.D. Sather, B.Y. Ryu, B.V. Stirling, M. Garibov, H.M. Kerns, and S. Humblet-Baron et al. Development of B-lineage predominant lentiviral vectors for use in genetic therapies for B cell disorders Mol Ther 19 2011 515 525
    • (2011) Mol Ther , vol.19 , pp. 515-525
    • Sather, B.D.1    Ryu, B.Y.2    Stirling, B.V.3    Garibov, M.4    Kerns, H.M.5    Humblet-Baron, S.6
  • 34
    • 77950397760 scopus 로고    scopus 로고
    • B cell-specific lentiviral gene therapy leads to sustained B-cell functional recovery in a murine model of X-linked agammaglobulinemia
    • H.M. Kerns, B.Y. Ryu, B.V. Stirling, B.D. Sather, A. Astrakhan, and S. Humblet-Baron et al. B cell-specific lentiviral gene therapy leads to sustained B-cell functional recovery in a murine model of X-linked agammaglobulinemia Blood 115 2010 2146 2155
    • (2010) Blood , vol.115 , pp. 2146-2155
    • Kerns, H.M.1    Ryu, B.Y.2    Stirling, B.V.3    Sather, B.D.4    Astrakhan, A.5    Humblet-Baron, S.6
  • 35
    • 0028425466 scopus 로고
    • A regulatory role for recombinase activating genes, RAG-1 and RAG-2, in T cell development
    • J. Wayne, H. Suh, Z. Misulovin, K.A. Sokol, K. Inaba, and M.C. Nussenzweig A regulatory role for recombinase activating genes, RAG-1 and RAG-2, in T cell development Immunity 1 1994 95 107
    • (1994) Immunity , vol.1 , pp. 95-107
    • Wayne, J.1    Suh, H.2    Misulovin, Z.3    Sokol, K.A.4    Inaba, K.5    Nussenzweig, M.C.6
  • 36
    • 0028135022 scopus 로고
    • TCR selection and allelic exclusion in RAG transgenic mice that exhibit abnormal T cell localization in lymph nodes and lymphatics
    • J. Wayne, H. Suh, K.A. Sokol, H.T. Petrie, M. Witmer-Pack, and S. Edelhoff et al. TCR selection and allelic exclusion in RAG transgenic mice that exhibit abnormal T cell localization in lymph nodes and lymphatics J Immunol 153 1994 5491 5502
    • (1994) J Immunol , vol.153 , pp. 5491-5502
    • Wayne, J.1    Suh, H.2    Sokol, K.A.3    Petrie, H.T.4    Witmer-Pack, M.5    Edelhoff, S.6
  • 37
    • 0035667196 scopus 로고    scopus 로고
    • Early death and severe lymphopenia caused by ubiquitous expression of the Rag1 and Rag2 genes in mice
    • V. Barreto, R. Marques, and J. Demengeot Early death and severe lymphopenia caused by ubiquitous expression of the Rag1 and Rag2 genes in mice Eur J Immunol 31 2001 3763 3772
    • (2001) Eur J Immunol , vol.31 , pp. 3763-3772
    • Barreto, V.1    Marques, R.2    Demengeot, J.3
  • 38
    • 35948946526 scopus 로고    scopus 로고
    • Gene editing in human stem cells using zinc finger nucleases and integrase-defective lentiviral vector delivery
    • A. Lombardo, P. Genovese, C.M. Beausejour, S. Colleoni, Y.L. Lee, and K.A. Kim et al. Gene editing in human stem cells using zinc finger nucleases and integrase-defective lentiviral vector delivery Nat Biotechnol 25 2007 1298 1306
    • (2007) Nat Biotechnol , vol.25 , pp. 1298-1306
    • Lombardo, A.1    Genovese, P.2    Beausejour, C.M.3    Colleoni, S.4    Lee, Y.L.5    Kim, K.A.6
  • 39
    • 84865513069 scopus 로고    scopus 로고
    • TALE nucleases: Tailored genome engineering made easy
    • C. Mussolino, and T. Cathomen TALE nucleases: tailored genome engineering made easy Curr Opin Biotechnol 23 2012 644 650
    • (2012) Curr Opin Biotechnol , vol.23 , pp. 644-650
    • Mussolino, C.1    Cathomen, T.2
  • 40
    • 0028203979 scopus 로고
    • CD3 components at the surface of pro-T cells can mediate pre-T cell development in vivo
    • H. Jacobs, D. Vandeputte, L. Tolkamp, E. de Vries, J. Borst, and A. Berns CD3 components at the surface of pro-T cells can mediate pre-T cell development in vivo Eur J Immunol 24 1994 934 939
    • (1994) Eur J Immunol , vol.24 , pp. 934-939
    • Jacobs, H.1    Vandeputte, D.2    Tolkamp, L.3    De Vries, E.4    Borst, J.5    Berns, A.6
  • 41
    • 84864569919 scopus 로고    scopus 로고
    • Anti-CD3ε mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: Therapeutic implications
    • V. Marrella, P.L. Poliani, E. Fontana, A. Casati, V. Maina, and B. Cassani et al. Anti-CD3ε mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications Blood 120 2012 1005 1014
    • (2012) Blood , vol.120 , pp. 1005-1014
    • Marrella, V.1    Poliani, P.L.2    Fontana, E.3    Casati, A.4    Maina, V.5    Cassani, B.6


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