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Volumn 95, Issue 4, 2010, Pages 538-541

Molecular basis of familial hemophagocytic lymphohistiocytosis

Author keywords

[No Author keywords available]

Indexed keywords

CONFOCAL MICROSCOPY; EDITORIAL; FLOW CYTOMETRY; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 1; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 2; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 3; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 4; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 5; HISTIOCYTOSIS; HUMAN; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PATHOGENESIS; PROTEIN ANALYSIS; SIGNAL TRANSDUCTION;

EID: 77950656593     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2009.019562     Document Type: Editorial
Times cited : (68)

References (28)
  • 1
    • 0000372673 scopus 로고
    • Familial haemophagocytic reticulosis
    • Farquhar J, Claireaux A. Familial haemophagocytic reticulosis. Arch Dis Child. 1952;27(136):519-25.
    • (1952) Arch Dis Child , vol.27 , Issue.136 , pp. 519-525
    • Farquhar, J.1    Claireaux, A.2
  • 2
    • 0029879812 scopus 로고    scopus 로고
    • Hemophagocytic lymphohistiocytosis. Report of 122 children from the International Registry. FHL Study Group of the Histiocyte Society
    • Aricò M, Janka G, Fischer A, Henter JI, Blanche S, Elinder G, et al. Hemophagocytic lymphohistiocytosis. Report of 122 children from the International Registry. FHL Study Group of the Histiocyte Society. Leukemia. 1996;10(2):197-203.
    • (1996) Leukemia , vol.10 , Issue.2 , pp. 197-203
    • Aricò, M.1    Janka, G.2    Fischer, A.3    Henter, J.I.4    Blanche, S.5    Elinder, G.6
  • 3
    • 0033361023 scopus 로고    scopus 로고
    • Localization of a gene for familial hemophagocytic lymphohistiocy- tosis at chromosome 9q21.3-22 by homozygosity mapping
    • Ohadi M, Lalloz MR, Sham P, Zhao J, Dearlove AM, Shiach C, et al. Localization of a gene for familial hemophagocytic lymphohistiocy- tosis 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    Zhao, J.4    Dearlove, A.M.5    Shiach, C.6
  • 4
    • 0033364525 scopus 로고    scopus 로고
    • Linkage of familial hemophagocytic lymphohistiocy- tosis to 10q21-22 and evidence for heterogeneity
    • Dufourcq-Lagelouse R, Jabado N, Le Deist F, Stephan JL, Souillet G, Bruin M, et al. Linkage of familial hemophagocytic lymphohistiocy- tosis to 10q21-22 and evidence for heterogeneity. Am J Hum Genet. 1999; 64(1):172-9.
    • (1999) Am J Hum Genet , vol.64 , Issue.1 , pp. 172-179
    • Dufourcq-Lagelouse, R.1    Jabado, N.2    Le Deist, F.3    Stephan, J.L.4    Souillet, G.5    Bruin, M.6
  • 6
    • 0034847883 scopus 로고    scopus 로고
    • Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis
    • Clementi R, zur Stadt U, Savoldi G, Varotto S, Conter V, De Fusco C, et al. Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis. J Med Genet. 2001;38(9):643-6.
    • (2001) J Med Genet , vol.38 , Issue.9 , pp. 643-646
    • Clementi, R.1    zur Stadt, U.2    Savoldi, G.3    Varotto, S.4    Conter, V.5    de Fusco, C.6
  • 7
    • 20344406945 scopus 로고    scopus 로고
    • A single amino acid change, A91V, leads to conformational changes that can impair processing to the active form of perforin
    • Trambas C, Gallo F, Pende D, Marcenaro S, Moretta L, De Fusco C, et al. A single amino acid change, A91V, leads to conformational changes that can impair processing to the active form of perforin. Blood. 2005;106(3):932-7.
    • (2005) Blood , vol.106 , Issue.3 , pp. 932-937
    • Trambas, C.1    Gallo, F.2    Pende, D.3    Marcenaro, S.4    Moretta, L.5    de Fusco, C.6
  • 8
    • 0034795745 scopus 로고    scopus 로고
    • Pathogenesis of haemophagocytic lymphohistiocytosis
    • Aricò M, Danesino C, Pende D, Moretta L. Pathogenesis of haemophagocytic lymphohistiocytosis. Br J Haematol. 2001;114(4): 761-9.
    • (2001) Br J Haematol , vol.114 , Issue.4 , pp. 761-769
    • Aricò, M.1    Danesino, C.2    Pende, D.3    Moretta, L.4
  • 9
    • 0037105371 scopus 로고    scopus 로고
    • Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations
    • Clementi R, Emmi L, Maccario R, Liotta F, Moretta L, Danesino C, Aricó M. Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. Blood. 2002;100(6):2266-7.
    • (2002) Blood , vol.100 , Issue.6 , pp. 2266-2267
    • Clementi, R.1    Emmi, L.2    Maccario, R.3    Liotta, F.4    Moretta, L.5    Danesino, C.6    Aricó, M.7
  • 10
    • 38349146702 scopus 로고    scopus 로고
    • Histiocyte Society HLH Study group. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin muta- tions
    • Trizzino A, zur Stadt U, Ueda I, Risma K, Janka G, Ishii E, et al.; Histiocyte Society HLH Study group. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin muta- tions. 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    Risma, K.4    Janka, G.5    Ishii, E.6
  • 11
    • 33746138137 scopus 로고    scopus 로고
    • Patients of African ancestry with hemophagocytic lymphohistio- cytosis share a common haplotype of PRF1 with a 50delT mutation
    • Lee SM, Sumegi J, Villanueva J, Tabata Y, Zhang K, Chakraborty R, et al. Patients of African ancestry with hemophagocytic lymphohistio- cytosis share a common haplotype of PRF1 with a 50delT mutation. J Pediatr. 2006;149(1):134-7.
    • (2006) J Pediatr , vol.149 , Issue.1 , pp. 134-137
    • Lee, S.M.1    Sumegi, J.2    Villanueva, J.3    Tabata, Y.4    Zhang, K.5    Chakraborty, R.6
  • 12
    • 77950685155 scopus 로고    scopus 로고
    • The UNC13D gene is the predom- inant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis
    • Hoi-Soo Yoon, Hee-Jin Kim, Keon-Hee Yoo, Ki-Woong Sung, Hong-Hoe Koo, Hyoung-Jin Kang, et al. The UNC13D gene is the predom- inant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis. Haematologica. 2010;95(4):622-6.
    • (2010) Haematologica , vol.95 , Issue.4 , pp. 622-626
    • Yoon, H.-S.1    Kim, H.-J.2    Yoo, K.-H.3    Sung, K.-W.4    Koo, H.-H.5    Kang, H.-J.6
  • 13
    • 10744224641 scopus 로고    scopus 로고
    • Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3)
    • Feldmann J, Callebaut I, Raposo G, Certain S, Bacq D, Dumont C, 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    Certain, S.4    Bacq, D.5    Dumont, C.6
  • 14
    • 33749333212 scopus 로고    scopus 로고
    • Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis
    • Santoro A, Cannella S, Bossi G, Gallo F, Trizzino A, Pende D, et al. Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis. J Med Genet. 2006;43(12): 953-60.
    • (2006) J Med Genet , vol.43 , Issue.12 , pp. 953-960
    • Santoro, A.1    Cannella, S.2    Bossi, G.3    Gallo, F.4    Trizzino, A.5    Pende, D.6
  • 15
    • 46849103879 scopus 로고    scopus 로고
    • Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lympho- histiocytosis type 3
    • Santoro A, Cannella S, Trizzino A, Bruno G, De Fusco C, Notarangelo LD, et al. Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lympho- histiocytosis type 3. Haematologica. 2008;93(7):1086-90.
    • (2008) Haematologica , vol.93 , Issue.7 , pp. 1086-1090
    • Santoro, A.1    Cannella, S.2    Trizzino, A.3    Bruno, G.4    de Fusco, C.5    Notarangelo, L.D.6
  • 16
    • 29944442846 scopus 로고    scopus 로고
    • Mutation spectrum in children with primary hemo- phagocytic lymphohistiocytosis: Molecular and functional analyses of PRF1, UNC13D,STX11,and RAB27A
    • Zur Stadt U, Beutel K, Kolberg S, Schneppenheim R, Kabisch H, Janka G, Hennies HC. Mutation spectrum in children with primary hemo- phagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D,STX11,and RAB27A. Hum Mutat. 2006;27(1):62-8.
    • (2006) Hum Mutat , vol.27 , Issue.1 , pp. 62-68
    • Zur Stadt, U.1    Beutel, K.2    Kolberg, S.3    Schneppenheim, R.4    Kabisch, H.5    Janka, G.6    Hennies, H.C.7
  • 17
    • 20144363940 scopus 로고    scopus 로고
    • Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type- 4 to chromosome 6q24 and identification of mutations in syntaxin 11
    • zur Stadt U, Schmidt S, Kasper B, Beutel K, Diler AS, Henter JI, 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    Beutel, K.4    Diler, A.S.5    Henter, J.I.6
  • 18
    • 34548814973 scopus 로고    scopus 로고
    • Defective cytotoxic lymphocyte degranulation in syntaxin-11 defi- cient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients
    • Bryceson YT, Rudd E, Zheng C, Edner J, Ma D, Wood SM, et al. Defective cytotoxic lymphocyte degranulation in syntaxin-11 defi- cient 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    Edner, J.4    Ma, D.5    Wood, S.M.6
  • 19
    • 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, Koch F, Grieve S, Pagel J, 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    Koch, F.4    Grieve, S.5    Pagel, J.6
  • 20
    • 72849125357 scopus 로고    scopus 로고
    • Munc18-2 deficiency causes familial hemophagocytic lymphohis- tiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells
    • Côte M, Ménager MM, Burgess A, Mahlaoui N, Picard C, Schaffner C, et al. Munc18-2 deficiency causes familial hemophagocytic lymphohis- tiocytosis 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
    • Côte, M.1    Ménager, M.M.2    Burgess, A.3    Mahlaoui, N.4    Picard, C.5    Schaffner, C.6
  • 23
    • 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):61-6.
    • (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
  • 24
    • 33749349937 scopus 로고    scopus 로고
    • Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): Defective CD107a surface expression her- alds Munc13-4 defect and discriminates between genetic subtypes of the disease
    • Marcenaro S, Gallo F, Martini S, Santoro A, Griffiths GM, Aricò M, et al. Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression her- alds Munc13-4 defect and discriminates between genetic subtypes of the disease. Blood. 2006;108(7):2316-23.
    • (2006) Blood , vol.108 , Issue.7 , pp. 2316-2323
    • Marcenaro, S.1    Gallo, F.2    Martini, S.3    Santoro, A.4    Griffiths, G.M.5    Aricò, M.6
  • 26
    • 0036786375 scopus 로고    scopus 로고
    • Histocyte Society. Treatment of hemophagocyt- ic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation
    • Henter JI, Samuelsson-Horne A, Aricò M, Egeler RM, Elinder G, Filipovich AH, et al.; Histocyte Society. Treatment of hemophagocyt- ic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation. Blood. 2002;100(7):2367-73.
    • (2002) Blood , vol.100 , Issue.7 , pp. 2367-2373
    • Henter, J.I.1    Samuelsson-Horne, A.2    Aricò, M.3    Egeler, R.M.4    Elinder, G.5    Filipovich, A.H.6
  • 27
    • 0036398422 scopus 로고    scopus 로고
    • Haemophagocytic lymphohistiocytosis: Proposal of a diagnostic algorithm based on perforin expression
    • Aricò M, Allen M, Brusa S, Clementi R, Pende D, Maccario R, et al. Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression. Br J Haematol. 2002;119(1): 180-8.
    • (2002) Br J Haematol , vol.119 , Issue.1 , pp. 180-188
    • Aricò, M.1    Allen, M.2    Brusa, S.3    Clementi, R.4    Pende, D.5    Maccario, R.6
  • 28
    • 55549118206 scopus 로고    scopus 로고
    • Hematopoietic stem cell transplantation for hemophagocytic lym- phohistiocytosis: A retrospective analysis of data from the Italian Association of Pediatric Hematology Oncology (AIEOP)
    • Cesaro S, Locatelli F, Lanino E, Porta F, Di Maio L, Messina C, et al. Hematopoietic stem cell transplantation for hemophagocytic lym- phohistiocytosis: a retrospective analysis of data from the Italian Association of Pediatric Hematology Oncology (AIEOP). Haematologica. 2008;93(11):1694-701.
    • (2008) Haematologica , vol.93 , Issue.11 , pp. 1694-1701
    • Cesaro, S.1    Locatelli, F.2    Lanino, E.3    Porta, F.4    Di Maio, L.5    Messina, C.6


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