-
1
-
-
0000372673
-
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
-
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
-
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
-
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
-
5
-
-
0033520970
-
Perforin gene defects in familial hemophagocytic lymphohistiocytosis
-
Stepp SE, Dufourcq-Lagelouse R, Le Deist F, Bhawan S, Certain S, Mathew PA, 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
Bhawan, S.4
Certain, S.5
Mathew, P.A.6
-
6
-
-
0034847883
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
21
-
-
77956109360
-
STXBP2 mutations in children with familial hemophagocytic lym- phohistiocytosis type 5
-
submitted
-
Cetica V, Santoro A, Gilmour KG, Sieni E, Pende D, Marcenaro S, et al. STXBP2 mutations in children with familial hemophagocytic lym- phohistiocytosis type 5. J Med Genet. submitted.
-
J Med Genet
-
-
Cetica, V.1
Santoro, A.2
Gilmour, K.G.3
Sieni, E.4
Pende, D.5
Marcenaro, S.6
-
22
-
-
0021269892
-
Impaired natural killer activity in lymphohistiocytosis syndrome
-
Perez N, Virelizier JL, Arenzana-Seisdedos F, Fischer A, Griscelli C. Impaired natural killer activity in lymphohistiocytosis syndrome. J Pediatr. 1984;104(4):569-73.
-
(1984)
J Pediatr
, vol.104
, Issue.4
, pp. 569-573
-
-
Perez, N.1
Virelizier, J.L.2
Arenzana-Seisdedos, F.3
Fischer, A.4
Griscelli, C.5
-
23
-
-
0036095443
-
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
-
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
-
25
-
-
33845619137
-
HLH-2004: Diagnostic and therapeutic guidelines for hemo- phagocytic lymphohistiocytosis
-
Henter JI, Horne A, Arico M, Egeler RM, Filipovich AH, Imashuku S, et al. HLH-2004: Diagnostic and therapeutic guidelines for hemo- phagocytic 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
Egeler, R.M.4
Filipovich, A.H.5
Imashuku, S.6
-
26
-
-
0036786375
-
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
-
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
-
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
|