-
1
-
-
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, et al. (1996) Hemophagocytic lymphohistiocytosis. Report of 122 children from the International Registry. FHL Study Group of the Histiocyte Society. Leukemia 10: 197-203.
-
(1996)
Leukemia
, vol.10
, pp. 197-203
-
-
Aricò, M.1
Janka, G.2
Fischer, A.3
Henter, J.I.4
Blanche, S.5
-
2
-
-
0036786375
-
Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation
-
Henter JI, Samuelsson-Horne A, Aricò M, Egeler RM, Elinder G, et al. (2002) Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation. Blood 100: 2367-2373.
-
(2002)
Blood
, vol.100
, pp. 2367-2373
-
-
Henter, J.I.1
Samuelsson-Horne, A.2
Aricò, M.3
Egeler, R.M.4
Elinder, G.5
-
3
-
-
34548384442
-
Immunotherapy of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins: a single-center retrospective report of 38 patients
-
Mahlaoui N, Ouachée-Chardin M, de Saint Basile G, Neven B, Picard C, et al. (2007) Immunotherapy of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins: a single-center retrospective report of 38 patients. Pediatrics 20: 622-628.
-
(2007)
Pediatrics
, vol.20
, pp. 622-628
-
-
Mahlaoui, N.1
Ouachée-Chardin, M.2
de Saint Basile, G.3
Neven, B.4
Picard, C.5
-
4
-
-
55549118206
-
Hematopoietic stem cell transplantation for hemophagocytic lymphohistiocytosis: 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, et al. (2008) Hematopoietic stem cell transplantation for hemophagocytic lymphohistiocytosis: a retrospective analysis of data from the Italian Association of Pediatric Hematology Oncology (AIEOP). Haematologica 93: 1694-1701.
-
(2008)
Haematologica
, vol.93
, pp. 1694-1701
-
-
Cesaro, S.1
Locatelli, F.2
Lanino, E.3
Porta, F.4
Di Maio, L.5
-
5
-
-
31544463005
-
Stem cell transplantation with reduced-intensity conditioning for hemophagocytic lymphohistiocytosis
-
Cooper N, Rao K, Gilmour K, Hadad L, Adams S, et al. (2006) Stem cell transplantation with reduced-intensity conditioning for hemophagocytic lymphohistiocytosis. Blood 107: 1233-1236.
-
(2006)
Blood
, vol.107
, pp. 1233-1236
-
-
Cooper, N.1
Rao, K.2
Gilmour, K.3
Hadad, L.4
Adams, S.5
-
6
-
-
33845619137
-
HLH-2004: Diagnostic and therapeutic guidelines for Hemophagocytic lymphohistiocytosis
-
Henter JI, Horne A, Arico M, Egeler RM, Filipovich AH, et al. (2007) HLH-2004: Diagnostic and therapeutic guidelines for Hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 48: 124-131.
-
(2007)
Pediatr Blood Cancer
, vol.48
, pp. 124-131
-
-
Henter, J.I.1
Horne, A.2
Arico, M.3
Egeler, R.M.4
Filipovich, A.H.5
-
7
-
-
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, et al. (2002) Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members. Blood 99: 61-66.
-
(2002)
Blood
, vol.99
, pp. 61-66
-
-
Kogawa, K.1
Lee, S.M.2
Villanueva, J.3
Marmer, D.4
Sumegi, J.5
-
8
-
-
33749349937
-
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, Santoro A, Griffiths GM, et al. (2006) 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 108: 2316-2323.
-
(2006)
Blood
, vol.108
, pp. 2316-2323
-
-
Marcenaro, S.1
Gallo, F.2
Martini, S.3
Santoro, A.4
Griffiths, G.M.5
-
9
-
-
0034795745
-
Pathogenesis of haemophagocytic lymphohistiocytosis
-
Aricò M, Danesino C, Pende D, Moretta L, (2001) Pathogenesis of haemophagocytic lymphohistiocytosis. Br J Haematol114: 761-769.
-
(2001)
Br J Haematol
, vol.114
, pp. 761-769
-
-
Aricò, M.1
Danesino, C.2
Pende, D.3
Moretta, L.4
-
10
-
-
84856222286
-
Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity.Cell Mol Life Sci
-
Sieni E, Cetica V, Mastrodicasa E, Pende D, et al. (2012) Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity.Cell Mol Life Sci. 69: 29-40.
-
(2012)
, vol.69
, pp. 29-40
-
-
Sieni, E.1
Cetica, V.2
Mastrodicasa, E.3
Pende, D.4
-
11
-
-
77954956416
-
Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules
-
de Saint Basile G, Ménasché G, Fischer A, (2010) Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules. Nat Rev Immunol 10: 568-579.
-
(2010)
Nat Rev Immunol
, vol.10
, pp. 568-579
-
-
de Saint Basile, G.1
Ménasché, G.2
Fischer, A.3
-
12
-
-
0033520970
-
Perforin gene defects in familial hemophagocytic lymphohistiocytosis
-
Stepp SE, Dufourcq-Lagelouse R, Le Deist F, Bhawan S, Certain S, et al. (1999) Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science 286: 1957-1959.
-
(1999)
Science
, vol.286
, pp. 1957-1959
-
-
Stepp, S.E.1
Dufourcq-Lagelouse, R.2
Le Deist, F.3
Bhawan, S.4
Certain, S.5
-
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, et al. (2003) Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell 115: 461-473.
-
(2003)
Cell
, vol.115
, pp. 461-473
-
-
Feldmann, J.1
Callebaut, I.2
Raposo, G.3
Certain, S.4
Bacq, D.5
-
14
-
-
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, et al. (2005) Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet 14: 827-834.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 827-834
-
-
zur Stadt, U.1
Schmidt, S.2
Kasper, B.3
Beutel, K.4
Diler, A.S.5
-
15
-
-
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, et al. (2009) Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11. Am J Hum Genet 85: 482-492.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 482-492
-
-
zur Stadt, U.1
Rohr, J.2
Seifert, W.3
Koch, F.4
Grieve, S.5
-
16
-
-
72849125357
-
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells
-
Côte M, Ménager MM, Burgess A, Mahlaoui N, Picard C, et al. (2009) Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J Clin Invest 119: 3765-3773.
-
(2009)
J Clin Invest
, vol.119
, pp. 3765-3773
-
-
Côte, M.1
Ménager, M.M.2
Burgess, A.3
Mahlaoui, N.4
Picard, C.5
-
17
-
-
77950656593
-
Molecular basis of familial hemophagocytic lymphohistiocytosis
-
Cetica V, Pende D, Griffiths GM, Aricò M, (2010) Molecular basis of familial hemophagocytic lymphohistiocytosis. Haematologica 95: 538-541.
-
(2010)
Haematologica
, vol.95
, pp. 538-541
-
-
Cetica, V.1
Pende, D.2
Griffiths, G.M.3
Aricò, M.4
-
18
-
-
0035865529
-
Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene
-
Arico M, Imashuku S, Clementi R, Hibi S, Teramura T, et al. (2001) Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene. Blood 97: 1131-1133.
-
(2001)
Blood
, vol.97
, pp. 1131-1133
-
-
Arico, M.1
Imashuku, S.2
Clementi, R.3
Hibi, S.4
Teramura, T.5
-
19
-
-
78149356369
-
X-linked lymphoproliferative syndromes: brothers or distant cousins?
-
Filipovich AH, Zhang K, Snow AL, Marsh RA, (2010) X-linked lymphoproliferative syndromes: brothers or distant cousins? Blood 116: 3398-3408.
-
(2010)
Blood
, vol.116
, pp. 3398-3408
-
-
Filipovich, A.H.1
Zhang, K.2
Snow, A.L.3
Marsh, R.A.4
-
20
-
-
0000372673
-
Familial haemophagocytic reticulosis
-
Farquhar J, Claireaux A, (1952) Familial haemophagocytic reticulosis. Arch Dis Child 27: 519-525.
-
(1952)
Arch Dis Child
, vol.27
, pp. 519-525
-
-
Farquhar, J.1
Claireaux, A.2
-
21
-
-
0035345280
-
Familial hemophagocytic lymphohistiocytosis: how late can the onset be?
-
Allen M, De Fusco C, Legrand F, Clementi R, Conter V, et al. (2001) Familial hemophagocytic lymphohistiocytosis: how late can the onset be? Haematologica 86: 499-503.
-
(2001)
Haematologica
, vol.86
, pp. 499-503
-
-
Allen, M.1
de Fusco, C.2
Legrand, F.3
Clementi, R.4
Conter, V.5
-
22
-
-
0037105371
-
Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations
-
Clementi R, Emmi L, Maccario R, Liotta F, Moretta L, et al. (2002) Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. Blood: 2266-2267.
-
(2002)
Blood
, pp. 2266-2267
-
-
Clementi, R.1
Emmi, L.2
Maccario, R.3
Liotta, F.4
Moretta, L.5
-
23
-
-
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, et al. (2005) A single amino acid change, A91V, leads to conformational changes that can impair processing to the active form of perforin. Blood 106: 932-937.
-
(2005)
Blood
, vol.106
, pp. 932-937
-
-
Trambas, C.1
Gallo, F.2
Pende, D.3
Marcenaro, S.4
Moretta, L.5
-
24
-
-
33749333212
-
Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis
-
Santoro A, Cannella S, Bossi G, Gallo F, Trizzino A, et al. (2006) Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis. J Med Genet 43: 953-960.
-
(2006)
J Med Genet
, vol.43
, pp. 953-960
-
-
Santoro, A.1
Cannella, S.2
Bossi, G.3
Gallo, F.4
Trizzino, A.5
-
25
-
-
77956109360
-
STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5
-
Cetica V, Santoro A, Gilmour KC, Sieni E, Beutel K, et al. (2010) STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5. J Med Genet 47: 595-600.
-
(2010)
J Med Genet
, vol.47
, pp. 595-600
-
-
Cetica, V.1
Santoro, A.2
Gilmour, K.C.3
Sieni, E.4
Beutel, K.5
-
26
-
-
34249812697
-
Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations
-
Ueda I, Kurokawa Y, Koike K, Ito S, Sakata A, et al. (2007) Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations. Am J Hematol 82: 427-432.
-
(2007)
Am J Hematol
, vol.82
, pp. 427-432
-
-
Ueda, I.1
Kurokawa, Y.2
Koike, K.3
Ito, S.4
Sakata, A.5
-
27
-
-
0033559748
-
Effective control of Epstein-Barr virus-related hemophagocytic lymphohistiocytosis with immunochemotherapy. Histiocyte Society
-
Imashuku S, Hibi S, Ohara T, Iwai A, Sako M, et al. (1999) Effective control of Epstein-Barr virus-related hemophagocytic lymphohistiocytosis with immunochemotherapy. Histiocyte Society. Blood 93: 1869-1874.
-
(1999)
Blood
, vol.93
, pp. 1869-1874
-
-
Imashuku, S.1
Hibi, S.2
Ohara, T.3
Iwai, A.4
Sako, M.5
-
28
-
-
80055079785
-
Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol
-
Trottestam H, Horne A, Aricò M, Egeler RM, Filipovich AH, et al. (2011) Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol. Blood 118: 4577-4584.
-
(2011)
Blood
, vol.118
, pp. 4577-4584
-
-
Trottestam, H.1
Horne, A.2
Aricò, M.3
Egeler, R.M.4
Filipovich, A.H.5
-
29
-
-
38349146702
-
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations
-
Trizzino A, zur Stadt U, Ueda I, Risma K, Janka G, et al. (2008) Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. J Med Genet 45: 15-21.
-
(2008)
J Med Genet
, vol.45
, pp. 15-21
-
-
Trizzino, A.1
zur Stadt, U.2
Ueda, I.3
Risma, K.4
Janka, G.5
-
30
-
-
79955540994
-
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3
-
Sieni E, Cetica V, Santoro A, Beutel K, Mastrodicasa E, et al. (2011) Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3. J Med Genet 48: 343-352.
-
(2011)
J Med Genet
, vol.48
, pp. 343-352
-
-
Sieni, E.1
Cetica, V.2
Santoro, A.3
Beutel, K.4
Mastrodicasa, E.5
-
31
-
-
82155184541
-
Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH
-
Zhang K, Jordan MB, Marsh RA, Johnson JA, Kissell D, et al. (2011) Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. Blood 118: 5794-5798.
-
(2011)
Blood
, vol.118
, pp. 5794-5798
-
-
Zhang, K.1
Jordan, M.B.2
Marsh, R.A.3
Johnson, J.A.4
Kissell, D.5
-
32
-
-
84858812138
-
A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes
-
Bryceson YT, Pende D, Maul-Pavicic A, Gilmour K, Ufheil H, et al. (2012) A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood 119: 2754-2763.
-
(2012)
Blood
, vol.119
, pp. 2754-2763
-
-
Bryceson, Y.T.1
Pende, D.2
Maul-Pavicic, A.3
Gilmour, K.4
Ufheil, H.5
|