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Volumn 119, Issue 12, 2012, Pages 2754-2763

A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes

Author keywords

[No Author keywords available]

Indexed keywords

INTERLEUKIN 2; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 1; PERFORIN; SIGNALING LYMPHOCYTE ACTIVATION MOLECULE ASSOCIATED PROTEIN; X LINKED INHIBITOR OF APOPTOSIS;

EID: 84858812138     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2011-08-374199     Document Type: Article
Times cited : (235)

References (48)
  • 1
    • 34547691044 scopus 로고    scopus 로고
    • Hemophagocytic syndromes
    • DOI 10.1016/j.blre.2007.05.001, PII S0268960X07000240
    • Janka GE. Hemophagocytic syndromes. Blood Rev. 2007;21(5):245-253. (Pubitemid 47212601)
    • (2007) Blood Reviews , vol.21 , Issue.5 , pp. 245-253
    • Janka, G.E.1
  • 2
    • 77649169379 scopus 로고    scopus 로고
    • Primary and secondary hemophagocytic lymphohistiocytosis: Clinical features, pathogenesis and therapy
    • Gupta S, Weitzman S. Primary and secondary hemophagocytic lymphohistiocytosis: clinical features, pathogenesis and therapy. Expert Rev Clin Immunol. 2010;6(1):137-154.
    • (2010) Expert Rev Clin Immunol , vol.6 , Issue.1 , pp. 137-154
    • Gupta, S.1    Weitzman, S.2
  • 3
    • 47149093903 scopus 로고    scopus 로고
    • When T cells and macrophages do not talk: The hemophagocytic syndromes
    • Arceci RJ. When T cells and macrophages do not talk: the hemophagocytic syndromes. Curr Opin Hematol. 2008;15(4):359-367.
    • (2008) Curr Opin Hematol , vol.15 , Issue.4 , pp. 359-367
    • Arceci, R.J.1
  • 7
    • 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
    • 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):482-492.
    • (2009) Am J Hum Genet , vol.85 , Issue.4 , pp. 482-492
    • Zur Stadt, U.1    Rohr, J.2    Seifert, W.3
  • 8
    • 72849125357 scopus 로고    scopus 로고
    • Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells
    • Côte 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):3765-3773.
    • (2009) J Clin Invest , vol.119 , Issue.12 , pp. 3765-3773
    • Côte, M.1    Menager, M.M.2    Burgess, A.3
  • 9
    • 77954956416 scopus 로고    scopus 로고
    • Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules
    • de Saint Basile G, Menasche G, Fischer A. Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules. Nat Rev Immunol. 2010; 10(8):568-579.
    • (2010) Nat Rev Immunol , vol.10 , Issue.8 , pp. 568-579
    • De Saint Basile, G.1    Menasche, G.2    Fischer, A.3
  • 10
    • 77950656593 scopus 로고    scopus 로고
    • Molecular basis of familial hemophagocytic lymphohistiocytosis
    • Cetica V, Pende D, Griffiths GM, Arico M. Molecular basis of familial hemophagocytic lymphohistiocytosis. Haematologica. 2010;95(4):538-541.
    • (2010) Haematologica , vol.95 , Issue.4 , pp. 538-541
    • Cetica, V.1    Pende, D.2    Griffiths, G.M.3    Arico, M.4
  • 13
    • 0018868919 scopus 로고
    • A new immunodeficiency disorder in humans involving NK cells
    • Roder JC, Haliotis T, Klein M, et al. A new immunodeficiency disorder in humans involving NK cells. Nature. 1980;284(5756):553-555. (Pubitemid 10070335)
    • (1980) Nature , vol.284 , Issue.5756 , pp. 553-555
    • Roder, J.C.1    Haliotis, T.2    Klein, M.3
  • 14
    • 72949100151 scopus 로고    scopus 로고
    • Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity
    • Wood SM, Meeths M, Chiang SC, et al. Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity. Blood. 2009;114(19):4117- 4127.
    • (2009) Blood , vol.114 , Issue.19 , pp. 4117-4127
    • Wood, S.M.1    Meeths, M.2    Chiang, S.C.3
  • 17
    • 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
    • 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
  • 18
    • 77956508441 scopus 로고    scopus 로고
    • XIAP deficiency: A unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease
    • Marsh RA, Madden L, Kitchen BJ, et al. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood. 2010;116(7): 1079-1082.
    • (2010) Blood , vol.116 , Issue.7 , pp. 1079-1082
    • Marsh, R.A.1    Madden, L.2    Kitchen, B.J.3
  • 19
    • 0031926347 scopus 로고    scopus 로고
    • Infection- and malignancy-associated hemophagocytic syndromes: Secondary hemophagocytic lymphohistiocytosis
    • DOI 10.1016/S0889-8588(05)70521-9
    • Janka G, Imashuku S, Elinder G, Schneider M, Henter JI. Infection- and malignancy-associated hemophagocytic syndromes. Secondary hemophagocytic lymphohistiocytosis. Hematol Oncol Clin North Am. 1998;12(2):435-444. (Pubitemid 28175891)
    • (1998) Hematology/Oncology Clinics of North America , vol.12 , Issue.2 , pp. 435-444
    • Janka, G.1    Imashuku, S.2    Elinder, G.3    Schneider, M.4    Henter, J.-I.5
  • 20
    • 0036707740 scopus 로고    scopus 로고
    • Macrophage activation syndrome
    • DOI 10.1097/00002281-200209000-00012
    • Ravelli A. Macrophage activation syndrome. Curr Opin Rheumatol. 2002;14(5):548-552. (Pubitemid 34953793)
    • (2002) Current Opinion in Rheumatology , vol.14 , Issue.5 , pp. 548-552
    • Ravelli, A.1
  • 21
    • 77649155207 scopus 로고    scopus 로고
    • Viral infections associated with haemophagocytic syndrome
    • Maakaroun NR, Moanna A, Jacob JT, Albrecht H. Viral infections associated with haemophagocytic syndrome. Rev Med Virol. 2010;20(2):93-105.
    • (2010) Rev Med Virol , vol.20 , Issue.2 , pp. 93-105
    • Maakaroun, N.R.1    Moanna, A.2    Jacob, J.T.3    Albrecht, H.4
  • 22
    • 54349115607 scopus 로고    scopus 로고
    • Hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis: A journey of a thousand miles begins with a single (big) step
    • Jordan MB, Filipovich AH. Hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis: a journey of a thousand miles begins with a single (big) step. Bone Marrow Transplant. 2008;42(7):433-437.
    • (2008) Bone Marrow Transplant , vol.42 , Issue.7 , pp. 433-437
    • Jordan, M.B.1    Filipovich, A.H.2
  • 26
    • 0036095443 scopus 로고    scopus 로고
    • Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members
    • Kogawa K, Lee SM, Villanueva J, Marmer D, Sumegi J, Filipovich AH. Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members. Blood. 2002;99(1):61-66.
    • (2002) Blood , vol.99 , Issue.1 , pp. 61-66
    • Kogawa, K.1    Lee, S.M.2    Villanueva, J.3    Marmer, D.4    Sumegi, J.5    Filipovich, A.H.6
  • 28
    • 74849095435 scopus 로고    scopus 로고
    • A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency
    • Marsh RA, Villanueva J, Zhang K, et al. A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency. Cytometry B Clin Cytom. 2009;76(5):334-344.
    • (2009) Cytometry B Clin Cytom , vol.76 , Issue.5 , pp. 334-344
    • Marsh, R.A.1    Villanueva, J.2    Zhang, K.3
  • 29
    • 33749349937 scopus 로고    scopus 로고
    • Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): Defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease
    • Marcenaro S, Gallo F, Martini S, et al. Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease. Blood. 2006;108(7):2316- 2323.
    • (2006) Blood , vol.108 , Issue.7 , pp. 2316-2323
    • Marcenaro, S.1    Gallo, F.2    Martini, S.3
  • 30
    • 34548814973 scopus 로고    scopus 로고
    • Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients
    • 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- 1915.
    • (2007) Blood , vol.110 , Issue.6 , pp. 1906-1915
    • Bryceson, Y.T.1    Rudd, E.2    Zheng, C.3
  • 31
    • 33745633063 scopus 로고    scopus 로고
    • Lethal hemophagocytic lymphohistiocytosis in Hermansky- Pudlak syndrome type II
    • Enders A, Zieger B, Schwarz K, et al. Lethal hemophagocytic lymphohistiocytosis in Hermansky- Pudlak syndrome type II. Blood. 2006;108(1):81- 87.
    • (2006) Blood , vol.108 , Issue.1 , pp. 81-87
    • Enders, A.1    Zieger, B.2    Schwarz, K.3
  • 32
    • 0025905925 scopus 로고
    • Cytotoxic T lymphocyte granules are secretory lysosomes, containing both perforin and granzymes
    • Peters PJ, Borst J, Oorschot V, et al. Cytotoxic T lymphocyte granules are secretory lysosomes, containing both perforin and granzymes. J Exp Med. 1991;173(5):1099-1109.
    • (1991) J Exp Med , vol.173 , Issue.5 , pp. 1099-1109
    • Peters, P.J.1    Borst, J.2    Oorschot, V.3
  • 33
    • 25844464180 scopus 로고    scopus 로고
    • Cytolytic granule polarization and degranulation controlled by different receptors in resting NK cells
    • Bryceson YT, March ME, Barber DF, Ljunggren HG, Long EO. Cytolytic granule polarization and degranulation controlled by different receptors in resting NK cells. J Exp Med. 2005;202(7):1001- 1012.
    • (2005) J Exp Med , vol.202 , Issue.7 , pp. 1001-1012
    • Bryceson, Y.T.1    March, M.E.2    Barber, D.F.3    Ljunggren, H.G.4    Long, E.O.5
  • 35
    • 10344255635 scopus 로고    scopus 로고
    • CD107a as a functional marker for the identification of natural killer cell activity
    • DOI 10.1016/j.jim.2004.08.008, PII S0022175904002923
    • Alter G, Malenfant JM, Altfeld M. CD107a as a functional marker for the identification of natural killer cell activity. J Immunol Methods. 2004; 294(1-2):15-22. (Pubitemid 39626587)
    • (2004) Journal of Immunological Methods , vol.294 , Issue.1-2 , pp. 15-22
    • Alter, G.1    Malenfant, J.M.2    Altfeld, M.3
  • 36
    • 70350497327 scopus 로고    scopus 로고
    • Minimal requirement for induction of natural cytotoxicity and intersection of activation signals by inhibitory receptors
    • Bryceson YT, Ljunggren HG, Long EO. Minimal requirement for induction of natural cytotoxicity and intersection of activation signals by inhibitory receptors. Blood. 2009;114(13):2657-2666.
    • (2009) Blood , vol.114 , Issue.13 , pp. 2657-2666
    • Bryceson, Y.T.1    Ljunggren, H.G.2    Long, E.O.3
  • 37
    • 77956305107 scopus 로고    scopus 로고
    • A novel assay for investigation of suspected familial haemophagocytic lymphohistiocytosis
    • Wheeler RD, Cale CM, Cetica V, Arico M, Gilmour KC. A novel assay for investigation of suspected familial haemophagocytic lymphohistiocytosis. Br J Haematol. 2010;150:727-30.
    • (2010) Br J Haematol , vol.150 , pp. 727-730
    • Wheeler, R.D.1    Cale, C.M.2    Cetica, V.3    Arico, M.4    Gilmour, K.C.5
  • 38
    • 79961135005 scopus 로고    scopus 로고
    • R Development Core Team. Vienna, Austria: R Foundation for Statistical Computing
    • R Development Core Team. R: A Language and Environment for Statistical Computing. Vienna, Austria: R Foundation for Statistical Computing; 2011.
    • (2011) R: A Language and Environment for Statistical Computing
  • 39
    • 79952709519 scopus 로고    scopus 로고
    • PROC: An open-source package for R and S+ to analyze and compare ROC curves
    • Robin X, Turck N, Hainard A, et al. pROC: an open-source package for R and S+ to analyze and compare ROC curves. BMC Bioinformatics. 2011;12:77.
    • (2011) BMC Bioinformatics , vol.12 , pp. 77
    • Robin, X.1    Turck, N.2    Hainard, A.3
  • 41
    • 77957954413 scopus 로고    scopus 로고
    • Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis (FHL) type 5 patients with mutations in STXBP2
    • Meeths M, Entesarian M, Al-Herz W, et al. Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis (FHL) type 5 patients with mutations in STXBP2. Blood. 2010; 116(15):2635-2643.
    • (2010) Blood , vol.116 , Issue.15 , pp. 2635-2643
    • Meeths, M.1    Entesarian, M.2    Al-Herz, W.3
  • 42
    • 78649897442 scopus 로고    scopus 로고
    • Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases
    • Rohr J, Beutel K, Maul-Pavicic A, et al. Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. Haematologica. 2010;95(12):2080-2087.
    • (2010) Haematologica , vol.95 , Issue.12 , pp. 2080-2087
    • Rohr, J.1    Beutel, K.2    Maul-Pavicic, A.3
  • 44
    • 82155184553 scopus 로고    scopus 로고
    • Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D
    • Meeths M, Chiang SC, Wood SM, et al. Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. Blood. 2011;118:5783-5793.
    • (2011) Blood , vol.118 , pp. 5783-5793
    • Meeths, M.1    Chiang, S.C.2    Wood, S.M.3
  • 45
    • 80055087431 scopus 로고    scopus 로고
    • Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome
    • 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;118:4620-4629.
    • (2011) Blood , vol.118 , pp. 4620-4629
    • Jessen, B.1    Maul-Pavicic, A.2    Ufheil, H.3
  • 46
    • 79955540994 scopus 로고    scopus 로고
    • Genotypephenotype study of familial haemophagocytic lymphohistiocytosis type 3
    • Sieni E, Cetica V, Santoro A, et al. Genotypephenotype study of familial haemophagocytic lymphohistiocytosis type 3. J Med Genet. 2011; 48(5):343-352.
    • (2011) J Med Genet , vol.48 , Issue.5 , pp. 343-352
    • Sieni, E.1    Cetica, V.2    Santoro, A.3
  • 47
    • 77953269026 scopus 로고    scopus 로고
    • STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America
    • Marsh RA, Satake N, Biroschak J, et al. STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America. Pediatr Blood Cancer. 2010;55(1):134-140.
    • (2010) Pediatr Blood Cancer , vol.55 , Issue.1 , pp. 134-140
    • Marsh, R.A.1    Satake, N.2    Biroschak, J.3
  • 48
    • 79551628425 scopus 로고    scopus 로고
    • Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4)
    • Macartney CA, Weitzman S, Wood SM, et al. Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4). Pediatr Blood Cancer. 2011;56(4):654-657.
    • (2011) Pediatr Blood Cancer , vol.56 , Issue.4 , pp. 654-657
    • Macartney, C.A.1    Weitzman, S.2    Wood, S.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.