-
1
-
-
84927509752
-
Incidence and clinical presentation of primary hemophagocytic lymphohistiocytosis in Sweden
-
Meeths M., Horne A., Sabel M., et al. Incidence and clinical presentation of primary hemophagocytic lymphohistiocytosis in Sweden. Pediatr Blood Cancer 2015, 62:346-352.
-
(2015)
Pediatr Blood Cancer
, vol.62
, pp. 346-352
-
-
Meeths, M.1
Horne, A.2
Sabel, M.3
-
2
-
-
34547633673
-
Nationwide survey of hemophagocytic lymphohistiocytosis in Japan
-
Ishii E., Ohga S., Imashuku S., et al. Nationwide survey of hemophagocytic lymphohistiocytosis in Japan. Int J Hematol 2007, 86(1):58-65.
-
(2007)
Int J Hematol
, vol.86
, Issue.1
, pp. 58-65
-
-
Ishii, E.1
Ohga, S.2
Imashuku, S.3
-
3
-
-
0000372673
-
Familial haemophagocytic reticulosis
-
Farquhar J.W., Claireaux A.E. Familial haemophagocytic reticulosis. Arch Dis Child 1952, 27(136):519-525.
-
(1952)
Arch Dis Child
, vol.27
, Issue.136
, pp. 519-525
-
-
Farquhar, J.W.1
Claireaux, A.E.2
-
4
-
-
0033520970
-
Perforin gene defects in familial hemophagocytic lymphohistiocytosis
-
Stepp S.E., Dufourcq-Lagelouse R., Le Deist F., et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science 1999, 286(5446):1957-1959.
-
(1999)
Science
, vol.286
, Issue.5446
, pp. 1957-1959
-
-
Stepp, S.E.1
Dufourcq-Lagelouse, R.2
Le Deist, F.3
-
5
-
-
0033361023
-
Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mapping
-
Ohadi M., Lalloz M.R., 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):165-171.
-
(1999)
Am J Hum Genet
, vol.64
, Issue.1
, pp. 165-171
-
-
Ohadi, M.1
Lalloz, M.R.2
Sham, P.3
-
6
-
-
54349115607
-
Hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis: a journey of a thousand miles begins with a single (big) step
-
Jordan M.B., Filipovich A.H. 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
-
7
-
-
38349146702
-
Genotype-phenotype study of familial hemophagocytic lymphohistiocytosis due to perforin mutations
-
Trizzino A., Zur Stadt U., Ueda I., et al. Genotype-phenotype study of familial hemophagocytic lymphohistiocytosis due to perforin mutations. J Med Genet 2007, 45(1):15-21.
-
(2007)
J Med Genet
, vol.45
, Issue.1
, pp. 15-21
-
-
Trizzino, A.1
Zur Stadt, U.2
Ueda, I.3
-
8
-
-
33746138137
-
Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation
-
Lee S.M., Sumegi J., Villanueva J., et al. Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation. J Pediatr 2006, 149(1):134-137.
-
(2006)
J Pediatr
, vol.149
, Issue.1
, pp. 134-137
-
-
Lee, S.M.1
Sumegi, J.2
Villanueva, J.3
-
9
-
-
10744224641
-
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL-3)
-
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 (FHL-3). Cell 2003, 115(4):461-473.
-
(2003)
Cell
, vol.115
, Issue.4
, pp. 461-473
-
-
Feldmann, J.1
Callebaut, I.2
Raposo, G.3
-
10
-
-
79955540994
-
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3
-
Sieni E., Cetica V., Santoro A., et al. Genotype-phenotype 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
-
11
-
-
33749333212
-
Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis
-
Santoro A., Cannella S., Bossi G., et al. Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis. J Med Genet 2006, 43(12):953-960.
-
(2006)
J Med Genet
, vol.43
, Issue.12
, pp. 953-960
-
-
Santoro, A.1
Cannella, S.2
Bossi, G.3
-
12
-
-
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., 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):827-834.
-
(2005)
Hum Mol Genet
, vol.14
, Issue.6
, pp. 827-834
-
-
zur Stadt, U.1
Schmidt, S.2
Kasper, B.3
-
13
-
-
72849125357
-
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells
-
Cote M., Ménager M.M., 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
-
-
Cote, M.1
Ménager, M.M.2
Burgess, A.3
-
14
-
-
84862749911
-
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)
-
Pagel J., Beutel K., Lehmberg K., et al. Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5). Blood 2012, 119(25):6016-6024.
-
(2012)
Blood
, vol.119
, Issue.25
, pp. 6016-6024
-
-
Pagel, J.1
Beutel, K.2
Lehmberg, K.3
-
15
-
-
13144278345
-
Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome
-
Nichols K.E., Harkin D.P., 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):13765-13770.
-
(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
-
16
-
-
33750597717
-
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome
-
Rigaud S., Fondanèche M.C., Lambert N., et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 2006, 444(7115):110-114.
-
(2006)
Nature
, vol.444
, Issue.7115
, pp. 110-114
-
-
Rigaud, S.1
Fondanèche, M.C.2
Lambert, N.3
-
17
-
-
77956508441
-
XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease
-
Marsh R.A., Madden L., Kitchen B.J., 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
-
18
-
-
79551644967
-
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)
-
Pachlopnik Schmid J., 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):1522-1529.
-
(2011)
Blood
, vol.117
, Issue.5
, pp. 1522-1529
-
-
Pachlopnik Schmid, J.1
Canioni, D.2
Moshous, D.3
-
19
-
-
0344002689
-
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
-
Menasche G., Pastural E., Feldmann J., et al. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet 2000, 25(2):173-176.
-
(2000)
Nat Genet
, vol.25
, Issue.2
, pp. 173-176
-
-
Menasche, G.1
Pastural, E.2
Feldmann, J.3
-
20
-
-
77649154766
-
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations
-
Meeths M., Bryceson Y.T., Rudd E., et al. Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. Pediatr Blood Cancer 2010, 54(4):563-572.
-
(2010)
Pediatr Blood Cancer
, vol.54
, Issue.4
, pp. 563-572
-
-
Meeths, M.1
Bryceson, Y.T.2
Rudd, E.3
-
21
-
-
82155184541
-
Hypomorphic mutations in PRF1, Munc13-4, and STXBP2 are associated with adult-onset familial HLH
-
Zhang K., Jordan M.B., Marsh R.A., et al. Hypomorphic mutations in PRF1, Munc13-4, and STXBP2 are associated with adult-onset familial HLH. Blood 2011, 118(22):5794-5798.
-
(2011)
Blood
, vol.118
, Issue.22
, pp. 5794-5798
-
-
Zhang, K.1
Jordan, M.B.2
Marsh, R.A.3
-
22
-
-
84929642116
-
Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion
-
Spessott W.A., Sanmillan M.L., McCormick M.E., et al. Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion. Blood 2015, 125(10):1566-1577.
-
(2015)
Blood
, vol.125
, Issue.10
, pp. 1566-1577
-
-
Spessott, W.A.1
Sanmillan, M.L.2
McCormick, M.E.3
-
23
-
-
84907348494
-
Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis
-
Zhang K., Chandrakasan S., Chapman H., et al. Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis. Blood 2014, 124(8):1331-1334.
-
(2014)
Blood
, vol.124
, Issue.8
, pp. 1331-1334
-
-
Zhang, K.1
Chandrakasan, S.2
Chapman, H.3
-
24
-
-
84912047373
-
Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis
-
Kaufman K.M., Linghu B., Szustakowski J.D., et al. Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis. Arthritis Rheumatol 2014, 66(12):3486-3495.
-
(2014)
Arthritis Rheumatol
, vol.66
, Issue.12
, pp. 3486-3495
-
-
Kaufman, K.M.1
Linghu, B.2
Szustakowski, J.D.3
-
25
-
-
0026065540
-
Diagnostic guidelines for hemophagocytic lymphohistiocytosis. The FHL Study Group of the Histiocyte Society
-
Henter J.I., Elinder G., Ost A. Diagnostic guidelines for hemophagocytic lymphohistiocytosis. The FHL Study Group of the Histiocyte Society. Semin Oncol 1991, 18(1):29-33.
-
(1991)
Semin Oncol
, vol.18
, Issue.1
, pp. 29-33
-
-
Henter, J.I.1
Elinder, G.2
Ost, A.3
-
26
-
-
33845619137
-
HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis
-
Henter J.I., Horne A., Aricó M., et al. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 2007, 48(2):124-131.
-
(2007)
Pediatr Blood Cancer
, vol.48
, Issue.2
, pp. 124-131
-
-
Henter, J.I.1
Horne, A.2
Aricó, M.3
-
27
-
-
0021269892
-
Impaired natural killer activity in lymphohistiocytosis syndrome
-
Perez N., Virelizier J.L., Arenzana-Seisdedos F., et al. Impaired natural killer activity in lymphohistiocytosis syndrome. J Pediatr 1984, 104(4):569-573.
-
(1984)
J Pediatr
, vol.104
, Issue.4
, pp. 569-573
-
-
Perez, N.1
Virelizier, J.L.2
Arenzana-Seisdedos, F.3
-
28
-
-
20944449435
-
Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions
-
Ishii E., Ueda I., Shirakawa R., et al. Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions. Blood 2005, 105(9):3442-3448.
-
(2005)
Blood
, vol.105
, Issue.9
, pp. 3442-3448
-
-
Ishii, E.1
Ueda, I.2
Shirakawa, R.3
-
29
-
-
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., 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
-
-
84858812138
-
A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes
-
Bryceson Y.T., 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):2754-2763.
-
(2012)
Blood
, vol.119
, Issue.12
, pp. 2754-2763
-
-
Bryceson, Y.T.1
Pende, D.2
Maul-Pavicic, A.3
-
31
-
-
0020578818
-
Familial hemophagocytic lymphohistiocytosis
-
Janka G.E. Familial hemophagocytic lymphohistiocytosis. Eur J Pediatr 1983, 140(3):221-230.
-
(1983)
Eur J Pediatr
, vol.140
, Issue.3
, pp. 221-230
-
-
Janka, G.E.1
-
32
-
-
0018860647
-
Successful treatment of lymphohistiocytic reticulosis with phagocytosis with epipodophyllotoxin VP 16-213
-
Ambruso D.R., Hays T., Zwartjes W.J., et al. Successful treatment of lymphohistiocytic reticulosis with phagocytosis with epipodophyllotoxin VP 16-213. Cancer 1980, 45(10):2516-2520.
-
(1980)
Cancer
, vol.45
, Issue.10
, pp. 2516-2520
-
-
Ambruso, D.R.1
Hays, T.2
Zwartjes, W.J.3
-
33
-
-
84891071036
-
Etoposide selectively ablates activated T cells to control the immunoregulatory disorder hemophagocytic lymphohistiocytosis
-
Johnson T.S., Terrell C.E., Millen S.H., et al. Etoposide selectively ablates activated T cells to control the immunoregulatory disorder hemophagocytic lymphohistiocytosis. J Immunol 2014, 192(1):84-91.
-
(2014)
J Immunol
, vol.192
, Issue.1
, pp. 84-91
-
-
Johnson, T.S.1
Terrell, C.E.2
Millen, S.H.3
-
34
-
-
0036786375
-
Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation
-
Henter J.I., Samuelsson-Horne A., Aricò M., et al. Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation. Blood 2002, 100(7):2367-2373.
-
(2002)
Blood
, vol.100
, Issue.7
, pp. 2367-2373
-
-
Henter, J.I.1
Samuelsson-Horne, A.2
Aricò, M.3
-
35
-
-
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., et al. Immunotherapy of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins: a single-center retrospective report of 38 patients. Pediatrics 2007, 120(3):e622-e628.
-
(2007)
Pediatrics
, vol.120
, Issue.3
, pp. e622-e628
-
-
Mahlaoui, N.1
Ouachée-Chardin, M.2
de Saint Basile, G.3
-
36
-
-
84870166438
-
Salvage therapy of refractory hemophagocytic lymphohistiocytosis with alemtuzumab
-
Marsh R.A., Allen C.E., McClain K.L., et al. Salvage therapy of refractory hemophagocytic lymphohistiocytosis with alemtuzumab. Pediatr Blood Cancer 2013, 60(1):101-109.
-
(2013)
Pediatr Blood Cancer
, vol.60
, Issue.1
, pp. 101-109
-
-
Marsh, R.A.1
Allen, C.E.2
McClain, K.L.3
-
37
-
-
38349139194
-
Frequency and spectrum of central nervous system involvement in 193 children with haemophagocytic lymphohistiocytosis
-
Horne A., Trottestam H., Aricò M., et al. Frequency and spectrum of central nervous system involvement in 193 children with haemophagocytic lymphohistiocytosis. Br J Haematol 2008, 140(3):327-335.
-
(2008)
Br J Haematol
, vol.140
, Issue.3
, pp. 327-335
-
-
Horne, A.1
Trottestam, H.2
Aricò, M.3
-
38
-
-
0030943203
-
Frequency and severity of central nervous system lesions in hemophagocytic lymphohistiocytosis
-
Haddad E., Sulis M.L., Jabado N., et al. Frequency and severity of central nervous system lesions in hemophagocytic lymphohistiocytosis. Blood 1997, 89(3):794-800.
-
(1997)
Blood
, vol.89
, Issue.3
, pp. 794-800
-
-
Haddad, E.1
Sulis, M.L.2
Jabado, N.3
-
39
-
-
50049118882
-
Unrelated donor hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis
-
Baker K.S., Filipovich A.H., Gross T.G., et al. Unrelated donor hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis. Bone Marrow Transplant 2008, 42(3):175-180.
-
(2008)
Bone Marrow Transplant
, vol.42
, Issue.3
, pp. 175-180
-
-
Baker, K.S.1
Filipovich, A.H.2
Gross, T.G.3
-
40
-
-
0022650751
-
Allogeneic bone marrow transplantation for erythrophagocytic lymphohistiocytosis
-
Fischer A., Cerf-Bensussan N., Blanche S., et al. Allogeneic bone marrow transplantation for erythrophagocytic lymphohistiocytosis. J Pediatr 1986, 108(2):267-270.
-
(1986)
J Pediatr
, vol.108
, Issue.2
, pp. 267-270
-
-
Fischer, A.1
Cerf-Bensussan, N.2
Blanche, S.3
-
41
-
-
80055079785
-
Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol
-
Trottestam H., Horne A., Aricò M., et al. Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol. Blood 2011, 118(17):4577-4584.
-
(2011)
Blood
, vol.118
, Issue.17
, pp. 4577-4584
-
-
Trottestam, H.1
Horne, A.2
Aricò, M.3
-
42
-
-
31544463005
-
Stem cell transplantation with reduced-intensity conditioning for hemophagocytic lymphohistiocytosis
-
Cooper N., Rao K., Gilmour K., et al. Stem cell transplantation with reduced-intensity conditioning for hemophagocytic lymphohistiocytosis. Blood 2006, 107(3):1233-1236.
-
(2006)
Blood
, vol.107
, Issue.3
, pp. 1233-1236
-
-
Cooper, N.1
Rao, K.2
Gilmour, K.3
-
43
-
-
78650637431
-
Reduced-intensity conditioning significantly improves survival of patients with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoietic cell transplantation
-
Marsh R.A., Vaughn G., Kim M.O., et al. Reduced-intensity conditioning significantly improves survival of patients with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoietic cell transplantation. Blood 2010, 116(26):5824-5831.
-
(2010)
Blood
, vol.116
, Issue.26
, pp. 5824-5831
-
-
Marsh, R.A.1
Vaughn, G.2
Kim, M.O.3
|