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Volumn 14, Issue 6, 2014, Pages 437-446

Gene therapy for haemophagocytic lymphohistiocytosis

Author keywords

Gene therapy; Haematopoietic stem cell transplantation; Haemophagocytic lymphohistiocytosis; Lentiviral vector

Indexed keywords

MURINAE;

EID: 84924810410     PISSN: 15665232     EISSN: 18755631     Source Type: Journal    
DOI: 10.2174/1566523214666140918112113     Document Type: Article
Times cited : (9)

References (82)
  • 1
    • 34547691044 scopus 로고    scopus 로고
    • Hemophagocytic syndromes
    • [1] Janka GE: Hemophagocytic syndromes. Blood Rev 2007; 21(5): 245-53.
    • (2007) Blood Rev , vol.21 , Issue.5 , pp. 245-253
    • Janka, G.E.1
  • 2
    • 38349139194 scopus 로고    scopus 로고
    • Frequency and spectrum of central nervous system involvement in 193 children with haemophagocytic lymphohistiocytosis
    • [2] Horne A, Trottestam H, Arico M, et al. Frequency and spectrum of central nervous system involvement in 193 children with haemophagocytic lymphohistiocytosis. Br J Haematol 2008; 140(3): 327-35.
    • (2008) Br J Haematol , vol.140 , Issue.3 , pp. 327-335
    • Horne, A.1    Trottestam, H.2    Arico, M.3
  • 4
    • 33845199637 scopus 로고    scopus 로고
    • Perforin-mediated targetcell death and immune homeostasis
    • [4] Voskoboinik I, Smyth MJ, Trapani JA. Perforin-mediated targetcell death and immune homeostasis. Nat Rev Immunol 2006; 6(12): 940-52.
    • (2006) Nat Rev Immunol , vol.6 , Issue.12 , pp. 940-952
    • Voskoboinik, I.1    Smyth, M.J.2    Trapani, J.A.3
  • 5
    • 3242752040 scopus 로고    scopus 로고
    • An animal model of hemophagocytic lymphohistiocytosis (Hlh): CD8+ t cells and interferon gamma are essential for the disorder
    • [5] Jordan MB, Hildeman D, Kappler J, Marrack P. An animal model of hemophagocytic lymphohistiocytosis (hlh): CD8+ t cells and interferon gamma are essential for the disorder. Blood 2004; 104(3): 735-43.
    • (2004) Blood , vol.104 , Issue.3 , pp. 735-743
    • Jordan, M.B.1    Hildeman, D.2    Kappler, J.3    Marrack, P.4
  • 6
    • 0025787766 scopus 로고
    • Hypercytokinemia in familial hemophagocytic lymphohistiocytosis
    • [6] Henter JI, Elinder G, Soder O, Hansson M, Andersson B, Andersson U. Hypercytokinemia in familial hemophagocytic lymphohistiocytosis. Blood 1991; 78(11): 2918-22.
    • (1991) Blood , vol.78 , Issue.11 , pp. 2918-2922
    • Henter, J.I.1    Elinder, G.2    Soder, O.3    Hansson, M.4    Ersson, B.5    Ersson, U.6
  • 7
    • 1442274795 scopus 로고    scopus 로고
    • Pathogenesis of hemophagocytic syndrome (Hps)
    • [7] Larroche C, Mouthon L. Pathogenesis of hemophagocytic syndrome (hps). Autoimmun Rev 2004; 3(2): 69-75.
    • (2004) Autoimmun Rev , vol.3 , Issue.2 , pp. 69-75
    • Larroche, C.1    Mouthon, L.2
  • 8
    • 0029416957 scopus 로고
    • Interferon-gamma and tumor necrosis factor-alpha suppress both early and late stages of hematopoiesis and induce programmed cell death
    • [8] Selleri C, Sato T, Anderson S, Young NS, Maciejewski JP. Interferon-gamma and tumor necrosis factor-alpha suppress both early and late stages of hematopoiesis and induce programmed cell death. J Cell Physiol 1995; 165(3): 538-46.
    • (1995) J Cell Physiol , vol.165 , Issue.3 , pp. 538-546
    • Selleri, C.1    Sato, T.2    Erson, S.3    Young, N.S.4    Maciejewski, J.P.5
  • 9
    • 0033361023 scopus 로고    scopus 로고
    • Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mapping
    • [9] Ohadi M, Lalloz MR, Sham P, et al. Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mapping. Am J Hum Genet 1999; 64(1): 165-71.
    • (1999) Am J Hum Genet , vol.64 , Issue.1 , pp. 165-171
    • Ohadi, M.1    Lalloz, M.R.2    Sham, P.3
  • 10
    • 79551703613 scopus 로고    scopus 로고
    • Familial haemophagocytic lymphohistiocytosis: Advances in the genetic basis, diagnosis and management
    • [10] Gholam C, Grigoriadou S, Gilmour KC, Gaspar HB. Familial haemophagocytic lymphohistiocytosis: Advances in the genetic basis, diagnosis and management. Clin Exp Immunol 2011; 163(3): 271-83.
    • (2011) Clin Exp Immunol , vol.163 , Issue.3 , pp. 271-283
    • Gholam, C.1    Grigoriadou, S.2    Gilmour, K.C.3    Gaspar, H.B.4
  • 11
    • 0033520970 scopus 로고    scopus 로고
    • Perforin gene defects in familial hemophagocytic lymphohistiocytosis
    • [11] Stepp SE, Dufourcq-Lagelouse R, Le Deist F, et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science 1999; 286(5446): 1957-9.
    • (1999) Science , vol.286 , Issue.5446 , pp. 1957-1959
    • Stepp, S.E.1    Dufourcq-Lagelouse, R.2    Le Deist, F.3
  • 12
    • 0035092422 scopus 로고    scopus 로고
    • Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis
    • [12] Goransdotter EK, Fadeel B, Nilsson-Ardnor S, et al. Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. Am J Hum Genet 2001; 68(3): 590-7.
    • (2001) Am J Hum Genet , vol.68 , Issue.3 , pp. 590-597
    • Goransdotter, E.K.1    Fadeel, B.2    Nilsson-Ardnor, S.3
  • 14
    • 84881309795 scopus 로고    scopus 로고
    • Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (Fhl2) patients
    • [14] An O, Gursoy A, Gurgey A, Keskin O. Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (fhl2) patients. Protein Sci 2013; 22(6): 823-39.
    • (2013) Protein Sci , vol.22 , Issue.6 , pp. 823-839
    • An, O.1    Gursoy, A.2    Gurgey, A.3    Keskin, O.4
  • 15
    • 0036277746 scopus 로고    scopus 로고
    • Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis
    • [15] Feldmann J, Le Deist F, Ouachee-Chardin M, et al. Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis. Br J Haematol 2002; 117(4): 965-72.
    • (2002) Br J Haematol , vol.117 , Issue.4 , pp. 965-972
    • Feldmann, J.1    Le Deist, F.2    Ouachee-Chardin, M.3
  • 16
    • 51249096022 scopus 로고    scopus 로고
    • Characterization of prf1, stx11 and unc13d genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis
    • [16] Horne A, Ramme KG, Rudd E, et al. Characterization of prf1, stx11 and unc13d genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. Br J Haematol 2008; 143(1): 75-83.
    • (2008) Br J Haematol , vol.143 , Issue.1 , pp. 75-83
    • Horne, A.1    Ramme, K.G.2    Rudd, E.3
  • 17
    • 38349146702 scopus 로고    scopus 로고
    • Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations
    • [17] Trizzino A, zur Stadt U, Ueda I, et al. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. J Med Genet 2008; 45(1): 15-21.
    • (2008) J Med Genet , vol.45 , Issue.1 , pp. 15-21
    • Trizzino, A.1    Zur Stadt, U.2    Ueda, I.3
  • 18
    • 40649116705 scopus 로고    scopus 로고
    • Spectrum, and clinical and functional implications of unc13d mutations in familial haemophagocytic lymphohistiocytosis
    • [18] Rudd E, Bryceson YT, Zheng C, et al. Spectrum, and clinical and functional implications of unc13d mutations in familial haemophagocytic lymphohistiocytosis. J Med Genet 2008; 45(3): 134-41.
    • (2008) J Med Genet , vol.45 , Issue.3 , pp. 134-141
    • Rudd, E.1    Bryceson, Y.T.2    Zheng, C.3
  • 19
    • 10744224641 scopus 로고    scopus 로고
    • Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (Fhl3)
    • [19] Feldmann J, Callebaut I, Raposo G, et al. Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (fhl3). Cell 2003; 115(4): 461-73.
    • (2003) Cell , vol.115 , Issue.4 , pp. 461-473
    • Feldmann, J.1    Callebaut, I.2    Raposo, G.3
  • 20
    • 34247880547 scopus 로고    scopus 로고
    • Secretory cytotoxic granule maturation and exocytosis require the effector protein hmunc13-4
    • [20] Menager MM, Menasche G, Romao M, et al. Secretory cytotoxic granule maturation and exocytosis require the effector protein hmunc13-4. Nat Immunol 2007; 8(3): 257-67.
    • (2007) Nat Immunol , vol.8 , Issue.3 , pp. 257-267
    • Menager, M.M.1    Menasche, G.2    Romao, M.3
  • 21
    • 20144363940 scopus 로고    scopus 로고
    • Linkage of familial hemophagocytic lymphohistiocytosis (Fhl) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11
    • [21] zur Stadt U, Schmidt S, Kasper B, et al. Linkage of familial hemophagocytic lymphohistiocytosis (fhl) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet 2005; 14(6): 827-34.
    • (2005) Hum Mol Genet , vol.14 , Issue.6 , pp. 827-834
    • Zur Stadt, U.1    Schmidt, S.2    Kasper, B.3
  • 22
    • 49749127387 scopus 로고    scopus 로고
    • Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with munc13-4 polymorphisms
    • [22] Zhang K, Biroschak J, Glass DN, et al. Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with munc13-4 polymorphisms. Arthritis Rheum 2008; 58(9): 2892-6.
    • (2008) Arthritis Rheum , vol.58 , Issue.9 , pp. 2892-2896
    • Zhang, K.1    Biroschak, J.2    Glass, D.N.3
  • 23
    • 46949093535 scopus 로고    scopus 로고
    • Syntaxin-11 is expressed in primary human monocytes/macrophages and acts as a negative regulator of macrophage engulfment of apoptotic cells and iggopsonized target cells
    • [23] Zhang S, Ma D, Wang X, et al. Syntaxin-11 is expressed in primary human monocytes/macrophages and acts as a negative regulator of macrophage engulfment of apoptotic cells and iggopsonized target cells. Br J Haematol 2008; 142(3): 469-79.
    • (2008) Br J Haematol , vol.142 , Issue.3 , pp. 469-479
    • Zhang, S.1    Ma, D.2    Wang, X.3
  • 25
    • 34548814973 scopus 로고    scopus 로고
    • Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (Fhl4) patients
    • [25] Bryceson YT, Rudd E, Zheng C, et al. Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (fhl4) patients. Blood 2007; 110(6): 1906-15.
    • (2007) Blood , vol.110 , Issue.6 , pp. 1906-1915
    • Bryceson, Y.T.1    Rudd, E.2    Zheng, C.3
  • 26
    • 72849125357 scopus 로고    scopus 로고
    • Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient nk cells
    • [26] Cote M, Menager MM, Burgess A, et al. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient nk cells. J Clin Invest 2009; 119(12): 3765-73.
    • (2009) J Clin Invest , vol.119 , Issue.12 , pp. 3765-3773
    • Cote, M.1    Menager, M.M.2    Burgess, A.3
  • 27
    • 70350500464 scopus 로고    scopus 로고
    • Familial hemophagocytic lymphohistiocytosis type 5 (Fhl-5) is caused by mutations in munc18-2 and impaired binding to syntaxin 11
    • [27] zur Stadt U, Rohr J, Seifert W, et al. Familial hemophagocytic lymphohistiocytosis type 5 (fhl-5) is caused by mutations in munc18-2 and impaired binding to syntaxin 11. Am J Hum Genet 2009; 85(4): 482-92.
    • (2009) Am J Hum Genet , vol.85 , Issue.4 , pp. 482-492
    • Zur Stadt, U.1    Rohr, J.2    Seifert, W.3
  • 28
    • 13144278345 scopus 로고    scopus 로고
    • Inactivating mutations in an sh2 domain-encoding gene in x-linked lymphoproliferative syndrome
    • [28] Nichols KE, Harkin DP, Levitz S, et al: Inactivating mutations in an sh2 domain-encoding gene in x-linked lymphoproliferative syndrome. Proc Natl Acad Sci U S A 1998; 95(23): 13765-70.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , Issue.23 , pp. 13765-13770
    • Nichols, K.E.1    Harkin, D.P.2    Levitz, S.3
  • 29
    • 17344372694 scopus 로고    scopus 로고
    • Host response to ebv infection in x-linked lymphoproliferative disease results from mutations in an sh2-domain encoding gene
    • [29] Coffey AJ, Brooksbank RA, Brandau O, et al. Host response to ebv infection in x-linked lymphoproliferative disease results from mutations in an sh2-domain encoding gene. Nat Genet 1998; 20(2): 129-35.
    • (1998) Nat Genet , vol.20 , Issue.2 , pp. 129-135
    • Coffey, A.J.1    Brooksbank, R.A.2    Brandau, O.3
  • 30
    • 0032190081 scopus 로고    scopus 로고
    • The x-linked lymphoproliferativedisease gene product sap regulates signals induced through the coreceptor slam
    • [30] Sayos J, Wu C, Morra M, et al. The x-linked lymphoproliferativedisease gene product sap regulates signals induced through the coreceptor slam. Nature 1998; 395(6701): 462-9.
    • (1998) Nature , vol.395 , Issue.6701 , pp. 462-469
    • Sayos, J.1    Wu, C.2    Morra, M.3
  • 31
    • 0034618065 scopus 로고    scopus 로고
    • X-linked lymphoproliferative disease. 2b4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill epstein-barr virus-infected cells
    • [31] Parolini S, Bottino C, Falco M, et al. X-linked lymphoproliferative disease. 2b4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill epstein-barr virus-infected cells. J Exp Med 2000; 192(3): 337-46.
    • (2000) J Exp Med , vol.192 , Issue.3 , pp. 337-346
    • Parolini, S.1    Bottino, C.2    Falco, M.3
  • 32
    • 0034664724 scopus 로고    scopus 로고
    • Functional requirement for sap in 2b4-mediated activation of human natural killer cells as revealed by the x-linked lymphoproliferative syndrome
    • [32] Tangye SG, Phillips JH, Lanier LL, Nichols KE. Functional requirement for sap in 2b4-mediated activation of human natural killer cells as revealed by the x-linked lymphoproliferative syndrome. J Immunol 2000; 165(6): 2932-6.
    • (2000) J Immunol , vol.165 , Issue.6 , pp. 2932-2936
    • Tangye, S.G.1    Phillips, J.H.2    Lanier, L.L.3    Nichols, K.E.4
  • 33
    • 19344372415 scopus 로고    scopus 로고
    • Sap controls the cytolytic activity of cd8+ t cells against ebv-infected cells
    • [33] Dupre L, Andolfi G, Tangye SG, et al. Sap controls the cytolytic activity of cd8+ t cells against ebv-infected cells. Blood 2005; 105(11): 4383-9.
    • (2005) Blood , vol.105 , Issue.11 , pp. 4383-4389
    • Dupre, L.1    Olfi, G.2    Tangye, S.G.3
  • 34
    • 15444374149 scopus 로고    scopus 로고
    • Defective nkt cell development in mice and humans lacking the adapter sap, the xlinked lymphoproliferative syndrome gene product
    • [34] Pasquier B, Yin L, Fondaneche MC, et al. Defective nkt cell development in mice and humans lacking the adapter sap, the xlinked lymphoproliferative syndrome gene product. J Exp Med 2005; 201(5): 695-701.
    • (2005) J Exp Med , vol.201 , Issue.5 , pp. 695-701
    • Pasquier, B.1    Yin, L.2    Fondaneche, M.C.3
  • 35
    • 53149083028 scopus 로고    scopus 로고
    • Differential requirement for the sap-fyn interaction during NK T cell development and function
    • [35] Nunez-Cruz S, Yeo WC, Rothman J, et al. Differential requirement for the sap-fyn interaction during NK T cell development and function. J Immunol 2008; 181(4): 2311-20.
    • (2008) J Immunol , vol.181 , Issue.4 , pp. 2311-2320
    • Nunez-Cruz, S.1    Yeo, W.C.2    Rothman, J.3
  • 37
    • 0037448564 scopus 로고    scopus 로고
    • Sap is required for generating long-term humoral immunity
    • [37] Crotty S, Kersh EN, Cannons J, Schwartzberg PL, Ahmed R. Sap is required for generating long-term humoral immunity. Nature 2003; 421(6920): 282-7.
    • (2003) Nature , vol.421 , Issue.6920 , pp. 282-287
    • Crotty, S.1    Kersh, E.N.2    Cannons, J.3    Schwartzberg, P.L.4    Ahmed, R.5
  • 38
    • 53649107278 scopus 로고    scopus 로고
    • Sap-controlled t-b cell interactions underlie germinal centre formation
    • [38] Qi H, Cannons JL, Klauschen F, Schwartzberg PL, Germain RN. Sap-controlled t-b cell interactions underlie germinal centre formation. Nature 2008; 455(7214): 764-9.
    • (2008) Nature , vol.455 , Issue.7214 , pp. 764-769
    • Qi, H.1    Cannons, J.L.2    Klauschen, F.3    Schwartzberg, P.L.4    Germain, R.N.5
  • 39
    • 70349929531 scopus 로고    scopus 로고
    • The apoptosis modulating role of sap (Slam associated protein) contributes to the symptomatology of the x linked lymphoproliferative disease
    • [39] Nagy N, Matskova L, Hellman U, Klein G, Klein E. The apoptosis modulating role of sap (slam associated protein) contributes to the symptomatology of the x linked lymphoproliferative disease. Cell Cycle 2009; 8(19): 3086-90.
    • (2009) Cell Cycle , vol.8 , Issue.19 , pp. 3086-3090
    • Nagy, N.1    Matskova, L.2    Hellman, U.3    Klein, G.4    Klein, E.5
  • 40
    • 78650984696 scopus 로고    scopus 로고
    • X-linked lymphoproliferative disease due to sap/sh2d1a deficiency: A multicenter study on the manifestations, management and outcome of the disease
    • [40] Booth C, Gilmour KC, Veys P, et al. X-linked lymphoproliferative disease due to sap/sh2d1a deficiency: A multicenter study on the manifestations, management and outcome of the disease. Blood 2011; 117(1): 53-62.
    • (2011) Blood , vol.117 , Issue.1 , pp. 53-62
    • Booth, C.1    Gilmour, K.C.2    Veys, P.3
  • 41
    • 33750597717 scopus 로고    scopus 로고
    • Xiap deficiency in humans causes an x-linked lymphoproliferative syndrome
    • [41] Rigaud S, Fondaneche MC, Lambert N, et al. Xiap deficiency in humans causes an x-linked lymphoproliferative syndrome. Nature 2006; 444(7115): 110-4.
    • (2006) Nature , vol.444 , Issue.7115 , pp. 110-114
    • Rigaud, S.1    Fondaneche, M.C.2    Lambert, N.3
  • 42
    • 79551644967 scopus 로고    scopus 로고
    • Clinical similarities and differences of patients with x-linked lymphoproliferative syndrome type 1 (Xlp-1/sap deficiency) versus type 2 (xlp-2/xiap deficiency)
    • [42] Pachlopnik SJ, Canioni D, Moshous D, et al. Clinical similarities and differences of patients with x-linked lymphoproliferative syndrome type 1 (xlp-1/sap deficiency) versus type 2 (xlp-2/xiap deficiency). Blood 2011; 117(5): 1522-9.
    • (2011) Blood , vol.117 , Issue.5 , pp. 1522-1529
    • Pachlopnik, S.J.1    Canioni, D.2    Moshous, D.3
  • 43
    • 84883228121 scopus 로고    scopus 로고
    • X-linked inhibitor of apoptosis (Xiap) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis
    • [43] Speckmann C, Lehmberg K, Albert MH, et al. X-linked inhibitor of apoptosis (xiap) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. Clin Immunol 2013; 149(1): 133-41.
    • (2013) Clin Immunol , vol.149 , Issue.1 , pp. 133-141
    • Speckmann, C.1    Lehmberg, K.2    Albert, M.H.3
  • 44
    • 66449085077 scopus 로고    scopus 로고
    • Girls homozygous for an il-2-inducible t cell kinase mutation that leads to protein deficiency develop fatal ebv-associated lymphoproliferation
    • [44] Huck K, Feyen O, Niehues T, et al. Girls homozygous for an il-2-inducible t cell kinase mutation that leads to protein deficiency develop fatal ebv-associated lymphoproliferation. J Clin Invest 2009; 119(5): 1350-8.
    • (2009) J Clin Invest , vol.119 , Issue.5 , pp. 1350-1358
    • Huck, K.1    Feyen, O.2    Niehues, T.3
  • 45
    • 84857800335 scopus 로고    scopus 로고
    • Cd27 deficiency is associated with combined immunodeficiency and persistent symptomatic ebv viremia
    • [45] van Montfrans JM, Hoepelman AI, Otto S, et al. Cd27 deficiency is associated with combined immunodeficiency and persistent symptomatic ebv viremia. J Allergy Clin Immunol 2012; 129(3): 787-93.
    • (2012) J Allergy Clin Immunol , vol.129 , Issue.3 , pp. 787-793
    • Van Montfrans, J.M.1    Hoepelman, A.I.2    Otto, S.3
  • 46
    • 84874537855 scopus 로고    scopus 로고
    • Combined immunodeficiency with life-threatening ebv-associated lymphoproliferative disorder in patients lacking functional cd27
    • [46] Salzer E, Daschkey S, Choo S, et al. Combined immunodeficiency with life-threatening ebv-associated lymphoproliferative disorder in patients lacking functional cd27. Haematologica 2013; 98(3): 473-8.
    • (2013) Haematologica , vol.98 , Issue.3 , pp. 473-478
    • Salzer, E.1    Daschkey, S.2    Choo, S.3
  • 47
    • 80054928104 scopus 로고    scopus 로고
    • Loss of magt1 abrogates the mg2+ flux required for t cell signaling and leads to a novel human primary immunodeficiency
    • [47] Li FY, Lenardo MJ, Chaigne-Delalande B. Loss of magt1 abrogates the mg2+ flux required for t cell signaling and leads to a novel human primary immunodeficiency. Magnes Res 2011; 24(3): S109-14.
    • (2011) Magnes Res , vol.24 , Issue.3 , pp. 109-114
    • Li, F.Y.1    Lenardo, M.J.2    Chaigne-Delalande, B.3
  • 48
    • 84886727845 scopus 로고    scopus 로고
    • Hemophagocytic lymphohistiocytosis: Advances in pathophysiology, diagnosis, and treatment
    • [48] Chandrakasan S, Filipovich AH. Hemophagocytic lymphohistiocytosis: Advances in pathophysiology, diagnosis, and treatment. J Pediatr 2013; 163(5): 1253-9.
    • (2013) J Pediatr , vol.163 , Issue.5 , pp. 1253-1259
    • Chandrakasan, S.1    Filipovich, A.H.2
  • 49
    • 84858812138 scopus 로고    scopus 로고
    • A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes
    • [49] Bryceson YT, Pende D, Maul-Pavicic A, et al. A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood 2012; 119(12): 2754-63.
    • (2012) Blood , vol.119 , Issue.12 , pp. 2754-2763
    • Bryceson, Y.T.1    Pende, D.2    Maul-Pavicic, A.3
  • 50
    • 80055087431 scopus 로고    scopus 로고
    • Subtle differences in ctl cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with chediak-higashi syndrome
    • [50] Jessen B, Maul-Pavicic A, Ufheil H, et al. Subtle differences in ctl cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with chediak-higashi syndrome. Blood 2011; 118(17): 4620-9.
    • (2011) Blood , vol.118 , Issue.17 , pp. 4620-4629
    • Jessen, B.1    Maul-Pavicic, A.2    Ufheil, H.3
  • 51
    • 13144259647 scopus 로고    scopus 로고
    • Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis
    • [51] Menasche G, Feldmann J, Fischer A, de Saint Basile G. Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis. Immunol Rev 2005; 203: 165-79.
    • (2005) Immunol Rev , vol.203 , pp. 165-179
    • Menasche, G.1    Feldmann, J.2    Fischer, A.3    De Saint Basile, G.4
  • 52
    • 38449096740 scopus 로고    scopus 로고
    • Secretory mechanisms in cellmediated cytotoxicity
    • [52] Stinchcombe JC, Griffiths GM: Secretory mechanisms in cellmediated cytotoxicity. Annu Rev Cell Dev Biol 2007; 23: 495-517.
    • (2007) Annu Rev Cell Dev Biol , vol.23 , pp. 495-517
    • Stinchcombe, J.C.1    Griffiths, G.M.2
  • 53
    • 84879456568 scopus 로고    scopus 로고
    • The risk of hemophagocytic lymphohistiocytosis in hermansky-pudlak syndrome type 2
    • [53] Jessen B, Bode SF, Ammann S, et al. The risk of hemophagocytic lymphohistiocytosis in hermansky-pudlak syndrome type 2. Blood 2013; 121(15): 2943-51.
    • (2013) Blood , vol.121 , Issue.15 , pp. 2943-2951
    • Jessen, B.1    Bode, S.F.2    Ammann, S.3
  • 54
    • 42349095543 scopus 로고    scopus 로고
    • Highly elevated ferritin levels and the diagnosis of hemophagocytic lymphohistiocytosis
    • [54] Allen CE, Yu X, Kozinetz CA, McClain KL. Highly elevated ferritin levels and the diagnosis of hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 2008; 50(6): 1227-35.
    • (2008) Pediatr Blood Cancer , vol.50 , Issue.6 , pp. 1227-1235
    • Allen, C.E.1    Yu, X.2    Kozinetz, C.A.3    McClain, K.L.4
  • 55
    • 77956305107 scopus 로고    scopus 로고
    • A novel assay for investigation of suspected familial haemophagocytic lymphohistiocytosis
    • [55] Wheeler RD, Cale CM, Cetica V, Arico M, Gilmour KC. A novel assay for investigation of suspected familial haemophagocytic lymphohistiocytosis. Br J Haematol 2010; 150(6): 727-30.
    • (2010) Br J Haematol , vol.150 , Issue.6 , pp. 727-730
    • Wheeler, R.D.1    Cale, C.M.2    Cetica, V.3    Arico, M.4    Gilmour, K.C.5
  • 56
    • 0026061971 scopus 로고
    • Incidence in sweden and clinical features of familial hemophagocytic lymphohistiocytosis
    • [56] Henter JI, Elinder G, Soder O, Ost A. Incidence in sweden and clinical features of familial hemophagocytic lymphohistiocytosis. Acta Paediatr Scand 1991; 80(4): 428-35.
    • (1991) Acta Paediatr Scand , vol.80 , Issue.4 , pp. 428-435
    • Henter, J.I.1    Elinder, G.2    Soder, O.3    Ost, A.4
  • 57
    • 80055079785 scopus 로고    scopus 로고
    • Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: Long-term results of the hlh-94 treatment protocol
    • [57] Trottestam H, Horne A, Arico M, et al. Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: Long-term results of the hlh-94 treatment protocol. Blood 2011; 118(17): 4577-84.
    • (2011) Blood , vol.118 , Issue.17 , pp. 4577-4584
    • Trottestam, H.1    Horne, A.2    Arico, M.3
  • 58
    • 33845619137 scopus 로고    scopus 로고
    • Hlh-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis
    • [58] Henter JI, Horne A, Arico M, et al. Hlh-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 2007; 48(2): 124-31.
    • (2007) Pediatr Blood Cancer , vol.48 , Issue.2 , pp. 124-131
    • Henter, J.I.1    Horne, A.2    Arico, M.3
  • 59
    • 34548384442 scopus 로고    scopus 로고
    • Immunotherapy of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins: A single-center retrospective report of 38 patients
    • [59] Mahlaoui N, Ouachee-Chardin M, de Saint Basile G, et al. Immunotherapy of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins: A single-center retrospective report of 38 patients. Pediatrics 2007; 120(3): e622-8.
    • (2007) Pediatrics , vol.120 , Issue.3 , pp. 622-628
    • Mahlaoui, N.1    Ouachee-Chardin, M.2    De Saint Basile, G.3
  • 60
    • 78650637431 scopus 로고    scopus 로고
    • Reduced-intensity conditioning significantly improves survival of patients with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoietic cell transplantation
    • [60] Marsh RA, Vaughn G, Kim MO, et al. Reduced-intensity conditioning significantly improves survival of patients with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoietic cell transplantation. Blood 2010; 116(26): 5824-31.
    • (2010) Blood , vol.116 , Issue.26 , pp. 5824-5831
    • Marsh, R.A.1    Vaughn, G.2    Kim, M.O.3
  • 61
    • 84873606153 scopus 로고    scopus 로고
    • Allogeneic hematopoietic cell transplantation for xiap deficiency: An international survey reveals poor outcomes
    • [61] Marsh RA, Rao K, Satwani P, et al. Allogeneic hematopoietic cell transplantation for xiap deficiency: An international survey reveals poor outcomes. Blood 2013; 121(6): 877-83.
    • (2013) Blood , vol.121 , Issue.6 , pp. 877-883
    • Marsh, R.A.1    Rao, K.2    Satwani, P.3
  • 62
    • 84891505988 scopus 로고    scopus 로고
    • Mixed hematopoietic or t-cell chimerism above a minimal threshold restores perforin-dependent immune regulation in perforin-deficient mice
    • [62] Terrell CE, Jordan MB. Mixed hematopoietic or t-cell chimerism above a minimal threshold restores perforin-dependent immune regulation in perforin-deficient mice. Blood 2013; 122(15): 2618-21.
    • (2013) Blood , vol.122 , Issue.15 , pp. 2618-2621
    • Terrell, C.E.1    Jordan, M.B.2
  • 63
    • 84879873039 scopus 로고    scopus 로고
    • Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy
    • [63] Biffi A, Montini E, Lorioli L, et al. Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy. Science 2013; 341(6148): 1233158.
    • (2013) Science , vol.341 , Issue.6148 , pp. 1233158
    • Biffi, A.1    Montini, E.2    Lorioli, L.3
  • 64
    • 77951699510 scopus 로고    scopus 로고
    • The transcriptional control of the perforin locus
    • [64] Pipkin ME, Rao A, Lichtenheld MG. The transcriptional control of the perforin locus. Immunol Rev 2010; 235(1): 55-72.
    • (2010) Immunol Rev , vol.235 , Issue.1 , pp. 55-72
    • Pipkin, M.E.1    Rao, A.2    Lichtenheld, M.G.3
  • 65
    • 84874078294 scopus 로고    scopus 로고
    • Sap gene transfer restores cellular and humoral immune function in a murine model of x-linked lymphoproliferative disease
    • [65] Rivat C, Booth C, Alonso-Ferrero M, et al. Sap gene transfer restores cellular and humoral immune function in a murine model of x-linked lymphoproliferative disease. Blood 2013; 121(7): 1073-6.
    • (2013) Blood , vol.121 , Issue.7 , pp. 1073-1076
    • Rivat, C.1    Booth, C.2    Alonso-Ferrero, M.3
  • 66
    • 33646346117 scopus 로고    scopus 로고
    • Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: A single-center report of 48 patients
    • [66] Ouachee-Chardin M, Elie C, de Saint Basile G, et al. Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: A single-center report of 48 patients. Pediatrics 2006; 117(4): e743-50.
    • (2006) Pediatrics , vol.117 , Issue.4 , pp. 743-750
    • Ouachee-Chardin, M.1    Elie, C.2    De Saint Basile, G.3
  • 67
    • 20444457982 scopus 로고    scopus 로고
    • Haematopoietic stem cell transplantation in haemophagocytic lymphohistiocytosis
    • [67] Horne A, Janka G, Maarten Egeler R, et al. Haematopoietic stem cell transplantation in haemophagocytic lymphohistiocytosis. Br J Haematol 2005; 129(5): 622-30.
    • (2005) Br J Haematol , vol.129 , Issue.5 , pp. 622-630
    • Horne, A.1    Janka, G.2    Maarten Egeler, R.3
  • 68
    • 0038446699 scopus 로고    scopus 로고
    • Persistence and expression of the adenosine deaminase gene for 12 years and immune reaction to gene transfer components: Long-term results of the first clinical gene therapy trial
    • [68] Muul LM, Tuschong LM, Soenen SL, et al. Persistence and expression of the adenosine deaminase gene for 12 years and immune reaction to gene transfer components: Long-term results of the first clinical gene therapy trial. Blood 2003; 101(7): 2563-9.
    • (2003) Blood , vol.101 , Issue.7 , pp. 2563-2569
    • Muul, L.M.1    Tuschong, L.M.2    Soenen, S.L.3
  • 69
    • 0028807727 scopus 로고
    • T lymphocyte-directed gene therapy for ada-scid: Initial trial results after 4 years
    • [69] 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.
    • (1995) Science , vol.270 , Issue.5235 , pp. 475-480
    • Blaese, R.M.1    Culver, K.W.2    Miller, A.D.3
  • 70
    • 0028789792 scopus 로고
    • Gene therapy in peripheral blood lymphocytes and bone marrow for adaimmunodeficient patients
    • [70] Bordignon C, Notarangelo LD, Nobili N, et al. Gene therapy in peripheral blood lymphocytes and bone marrow for adaimmunodeficient patients. Science 1995; 270(5235): 470-5.
    • (1995) Science , vol.270 , Issue.5235 , pp. 470-475
    • Bordignon, C.1    Notarangelo, L.D.2    Nobili, N.3
  • 71
    • 0034254611 scopus 로고    scopus 로고
    • Prolonged survival and tissue trafficking following adoptive transfer of cd4zeta genemodified autologous cd4(+) and cd8(+) t cells in human immunodeficiency virus-infected subjects
    • [71] Mitsuyasu RT, Anton PA, Deeks SG, et al. Prolonged survival and tissue trafficking following adoptive transfer of cd4zeta genemodified autologous cd4(+) and cd8(+) t cells in human immunodeficiency virus-infected subjects. Blood 2000; 96(3): 785-93.
    • (2000) Blood , vol.96 , Issue.3 , pp. 785-793
    • Mitsuyasu, R.T.1    Anton, P.A.2    Deeks, S.G.3
  • 72
    • 0035989039 scopus 로고    scopus 로고
    • A phase ii randomized study of hiv-specific t-cell gene therapy in subjects with undetectable plasma viremia on combination antiretroviral therapy
    • [72] Deeks SG, Wagner B, Anton PA, et al. A phase ii randomized study of hiv-specific t-cell gene therapy in subjects with undetectable plasma viremia on combination antiretroviral therapy. Mol Ther 2002; 5(6): 788-97.
    • (2002) Mol Ther , vol.5 , Issue.6 , pp. 788-797
    • Deeks, S.G.1    Wagner, B.2    Anton, P.A.3
  • 73
    • 65349157330 scopus 로고    scopus 로고
    • Infusion of suicidegene-engineered donor lymphocytes after family haploidentical haemopoietic stem-cell transplantation for leukaemia (The tk007 trial): A non-randomised phase i-ii study
    • [73] Ciceri F, Bonini C, Stanghellini MT, et al. Infusion of suicidegene-engineered donor lymphocytes after family haploidentical haemopoietic stem-cell transplantation for leukaemia (the tk007 trial): A non-randomised phase i-ii study. Lancet Oncol 2009; 10(5): 489-500.
    • (2009) Lancet Oncol , vol.10 , Issue.5 , pp. 489-500
    • Ciceri, F.1    Bonini, C.2    Stanghellini, M.T.3
  • 74
    • 84860718270 scopus 로고    scopus 로고
    • Decade-long safety and function of retroviral-modified chimeric antigen receptor t cells
    • [74] Scholler J, Brady TL, Binder-Scholl G, et al. Decade-long safety and function of retroviral-modified chimeric antigen receptor t cells. Sci Transl Med 2012; 4(132): 132153.
    • (2012) Sci Transl Med , vol.4 , Issue.132 , pp. 132153
    • Scholler, J.1    Brady, T.L.2    Binder-Scholl, G.3
  • 75
    • 55949125601 scopus 로고    scopus 로고
    • Adoptive cell therapy for patients with metastatic melanoma: Evaluation of intensive myeloablative chemoradiation preparative regimens
    • [75] Dudley ME, Yang JC, Sherry R, et al. Adoptive cell therapy for patients with metastatic melanoma: Evaluation of intensive myeloablative chemoradiation preparative regimens. J Clin Oncol 2008; 26(32): 5233-9.
    • (2008) J Clin Oncol , vol.26 , Issue.32 , pp. 5233-5239
    • Dudley, M.E.1    Yang, J.C.2    Sherry, R.3
  • 76
    • 80051775476 scopus 로고    scopus 로고
    • T cells with chimeric antigen receptors have potent antitumor effects and can establish memory in patients with advanced leukemia
    • [76] Kalos M, Levine BL, Porter DL, et al. T cells with chimeric antigen receptors have potent antitumor effects and can establish memory in patients with advanced leukemia. Sci Transl Med 2011; 3(95): 95-73.
    • (2011) Sci Transl Med , vol.3 , Issue.95 , pp. 95-103
    • Kalos, M.1    Levine, B.L.2    Porter, D.L.3
  • 77
    • 80051720194 scopus 로고    scopus 로고
    • Chimeric antigen receptor-modified t cells in chronic lymphoid leukemia
    • [77] Porter DL, Levine BL, Kalos M, Bagg A, June CH. Chimeric antigen receptor-modified t cells in chronic lymphoid leukemia. N Engl J Med 2011; 365(8): 725-33.
    • (2011) N Engl J Med , vol.365 , Issue.8 , pp. 725-733
    • Porter, D.L.1    Levine, B.L.2    Kalos, M.3    Bagg, A.4    June, C.H.5
  • 78
    • 84895487305 scopus 로고    scopus 로고
    • Gene editing of ccr5 in autologous cd4 t cells of persons infected with hiv
    • [78] Tebas P, Stein D, Tang WW, et al. Gene editing of ccr5 in autologous cd4 t cells of persons infected with hiv. N Engl J Med 2014; 370(10): 901-10.
    • (2014) N Engl J Med , vol.370 , Issue.10 , pp. 901-910
    • Tebas, P.1    Stein, D.2    Tang, W.W.3
  • 79
    • 84865688046 scopus 로고    scopus 로고
    • T-cell therapy in the treatment of post-transplant lymphoproliferative disease
    • [79] Bollard CM, Rooney CM, Heslop HE. T-cell therapy in the treatment of post-transplant lymphoproliferative disease. Nat Rev Clin Oncol 2012; 9(9): 510-9.
    • (2012) Nat Rev Clin Oncol , vol.9 , Issue.9 , pp. 510-519
    • Bollard, C.M.1    Rooney, C.M.2    Heslop, H.E.3
  • 80
    • 70349247010 scopus 로고    scopus 로고
    • Functionally active virusspecific t cells that target cmv, adenovirus, and ebv can be expanded from naive t-cell populations in cord blood and will target a range of viral epitopes
    • [80] Hanley PJ, Cruz CR, Savoldo B, et al. Functionally active virusspecific t cells that target cmv, adenovirus, and ebv can be expanded from naive t-cell populations in cord blood and will target a range of viral epitopes. Blood 2009; 114(9): 1958-67.
    • (2009) Blood , vol.114 , Issue.9 , pp. 1958-1967
    • Hanley, P.J.1    Cruz, C.R.2    Savoldo, B.3
  • 81
    • 84858689681 scopus 로고    scopus 로고
    • The role of virus-specific adoptive t-cell therapy in hematopoietic transplantation
    • [81] Sellar RS, Peggs KS. The role of virus-specific adoptive t-cell therapy in hematopoietic transplantation. Cytotherapy 2012; 14(4): 391-400.
    • (2012) Cytotherapy , vol.14 , Issue.4 , pp. 391-400
    • Sellar, R.S.1    Peggs, K.S.2
  • 82
    • 79953007434 scopus 로고    scopus 로고
    • Review of haemophagocytic lymphohistiocytosis
    • [82] Freeman HR, Ramanan AV. Review of haemophagocytic lymphohistiocytosis. Arch Dis Child 2011; 96(7): 688-93.
    • (2011) Arch Dis Child , vol.96 , Issue.7 , pp. 688-693
    • Freeman, H.R.1    Ramanan, A.V.2


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