-
2
-
-
0033364525
-
Linkage of familial hemophagocytic lymphohistiocytosis to 10q 21-22 and evidence for heterogeneity
-
Dufourcq-Lagelouse R, Jabado N, Le Deist F, et al. Linkage of familial hemophagocytic lymphohistiocytosis to 10q 21-22 and evidence for heterogeneity. Am J Hum Genet 1999; 64: 172-179.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 172-179
-
-
Dufourcq-Lagelouse, R.1
Jabado, N.2
Le Deist, F.3
-
3
-
-
10744224641
-
Munc 13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3)
-
Feldmann J, Callebaut I, Raposo G, et al. Munc 13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell 2003; 115: 461-473.
-
(2003)
Cell
, vol.115
, pp. 461-473
-
-
Feldmann, J.1
Callebaut, I.2
Raposo, G.3
-
4
-
-
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: 827-834.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 827-834
-
-
Zur Stadt, U.1
Schmidt, S.2
Kasper, B.3
-
5
-
-
70350500464
-
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc 18-2 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 Munc 18-2 and impaired binding to syntaxin 11. Am J Hum Genet 2009; 85: 482-492.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 482-492
-
-
Zur Stadt, U.1
Rohr, J.2
Seifert, W.3
-
6
-
-
66449085077
-
Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation
-
Huck K, Feyen O, Niehues T, et al. Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. J Clin Invest 2009; 119: 1350-1358.
-
(2009)
J Clin Invest
, vol.119
, pp. 1350-1358
-
-
Huck, K.1
Feyen, O.2
Niehues, T.3
-
7
-
-
77953511844
-
Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis: A retrospective study of 78 pediatric cases in mainland of China
-
Jin YK, Xie ZD, Yang S, et al. Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis: A retrospective study of 78 pediatric cases in mainland of China. Chin Med J (Engl) 2010; 123: 1426-1430.
-
(2010)
Chin Med J (Engl)
, vol.123
, pp. 1426-1430
-
-
Jin, Y.K.1
Xie, Z.D.2
Yang, S.3
-
8
-
-
2942572043
-
Longitudinal follow-up of patients with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis
-
Imashuku S, Teramura T, Tauchi H, et al. Longitudinal follow-up of patients with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. Haematologica 2004; 89: 183-188.
-
(2004)
Haematologica
, vol.89
, pp. 183-188
-
-
Imashuku, S.1
Teramura, T.2
Tauchi, H.3
-
9
-
-
0034331249
-
Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease
-
Sumegi J, Huang D, Lanyi A, et al. Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease. Blood 2000; 96: 3118-3125.
-
(2000)
Blood
, vol.96
, pp. 3118-3125
-
-
Sumegi, J.1
Huang, D.2
Lanyi, A.3
-
10
-
-
0031203664
-
EBV-elicited familial hemophagocytic lymphohistiocytosis
-
Cho HS, Park YN, Lyu CJ, et al. EBV-elicited familial hemophagocytic lymphohistiocytosis. Yonsei Med J 1997; 38: 245-248.
-
(1997)
Yonsei Med J
, vol.38
, pp. 245-248
-
-
Cho, H.S.1
Park, Y.N.2
Lyu, C.J.3
-
11
-
-
0033120342
-
Clonal change of infiltrating T-cells in children with familial hemophagocytic lymphohistiocytosis: Possible association with Epstein-Barr virus infection
-
Ishii E, Kimura N, Kato K, et al. Clonal change of infiltrating T-cells in children with familial hemophagocytic lymphohistiocytosis: Possible association with Epstein-Barr virus infection. Cancer 1999; 85: 1636-1643.
-
(1999)
Cancer
, vol.85
, pp. 1636-1643
-
-
Ishii, E.1
Kimura, N.2
Kato, K.3
-
12
-
-
33845619137
-
HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis
-
Henter JI, Horne A, Arico M, et al. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 2007; 48: 124-131.
-
(2007)
Pediatr Blood Cancer
, vol.48
, pp. 124-131
-
-
Henter, J.I.1
Horne, A.2
Arico, M.3
-
13
-
-
0036900751
-
Clinical features and treatment strategies of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis
-
Imashuku S. Clinical features and treatment strategies of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. Crit Rev Oncol Hematol 2002; 44: 259-272.
-
(2002)
Crit Rev Oncol Hematol
, vol.44
, pp. 259-272
-
-
Imashuku, S.1
-
14
-
-
74549196141
-
Mutations in the perforin gene in children with hemophagocytic lymphohistiocytosis
-
Lu G, Xie ZD, Shen KL, et al. Mutations in the perforin gene in children with hemophagocytic lymphohistiocytosis. Chin Med J (Engl) 2009; 122: 2851-2855.
-
(2009)
Chin Med J (Engl)
, vol.122
, pp. 2851-2855
-
-
Lu, G.1
Xie, Z.D.2
Shen, K.L.3
-
15
-
-
15844397403
-
Identification of the homologous beige and Chediak-Higashi syndrome genes
-
Barbosa MD, Nguyen QA, Tchernev VT, et al. Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 1996; 382: 262-265.
-
(1996)
Nature
, vol.382
, pp. 262-265
-
-
Barbosa, M.D.1
Nguyen, Q.A.2
Tchernev, V.T.3
-
16
-
-
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: 173-176.
-
(2000)
Nat Genet
, vol.25
, pp. 173-176
-
-
Menasche, G.1
Pastural, E.2
Feldmann, J.3
-
17
-
-
17344372694
-
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
-
Coffey AJ, Brooksbank RA, Brandau O, et al. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet 1998; 20: 129-135.
-
(1998)
Nat Genet
, vol.20
, pp. 129-135
-
-
Coffey, A.J.1
Brooksbank, R.A.2
Brandau, O.3
-
18
-
-
33750597717
-
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome
-
Rigaud S, Fondaneche MC, Lambert N, et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 2006; 444: 110-114.
-
(2006)
Nature
, vol.444
, pp. 110-114
-
-
Rigaud, S.1
Fondaneche, M.C.2
Lambert, N.3
-
19
-
-
29944442846
-
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: Molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A
-
Zur Stadt U, Beutel K, Kolberg S, et al. Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: Molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. Hum Mutat 2006; 27: 62-68.
-
(2006)
Hum Mutat
, vol.27
, pp. 62-68
-
-
Zur Stadt, U.1
Beutel, K.2
Kolberg, S.3
-
20
-
-
0038692336
-
Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan
-
Ueda I, Morimoto A, Inaba T, et al. Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan. Br J Haematol 2003; 121: 503-510.
-
(2003)
Br J Haematol
, vol.121
, pp. 503-510
-
-
Ueda, I.1
Morimoto, A.2
Inaba, T.3
-
21
-
-
35348993736
-
Cytophagic histiocytic panniculitis with fatal haemophagocytic lymphohistiocytosis in a paediatric patient with perforin gene mutation
-
Chen RL, Hsu YH, Ueda I, et al. Cytophagic histiocytic panniculitis with fatal haemophagocytic lymphohistiocytosis in a paediatric patient with perforin gene mutation. J Clin Pathol 2007; 60: 1168-1169.
-
(2007)
J Clin Pathol
, vol.60
, pp. 1168-1169
-
-
Chen, R.L.1
Hsu, Y.H.2
Ueda, I.3
-
22
-
-
77950685155
-
UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis
-
Yoon HS, Kim HJ, Yoo KH, et al. UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis. Haematologica 2010; 95: 622-626.
-
(2010)
Haematologica
, vol.95
, pp. 622-626
-
-
Yoon, H.S.1
Kim, H.J.2
Yoo, K.H.3
-
23
-
-
6344249090
-
Identification of novel MUNC 13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes
-
Yamamoto K, Ishii E, Sako M, et al. Identification of novel MUNC 13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes. J Med Genet 2004; 41: 763-767.
-
(2004)
J Med Genet
, vol.41
, pp. 763-767
-
-
Yamamoto, K.1
Ishii, E.2
Sako, M.3
-
24
-
-
77953269026
-
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: 134-140.
-
(2010)
Pediatr Blood Cancer
, vol.55
, pp. 134-140
-
-
Marsh, R.A.1
Satake, N.2
Biroschak, J.3
-
25
-
-
0035992264
-
A spectrum of mutations in SH2D1A that causes X-linked lymphoproliferative disease and other Epstein-Barr virus-associated illnesses
-
Sumegi J, Seemayer TA, Huang D, et al. A spectrum of mutations in SH2D1A that causes X-linked lymphoproliferative disease and other Epstein-Barr virus-associated illnesses. Leuk Lymphoma 2002; 43: 1189-1201.
-
(2002)
Leuk Lymphoma
, vol.43
, pp. 1189-1201
-
-
Sumegi, J.1
Seemayer, T.A.2
Huang, D.3
-
26
-
-
34948846192
-
HLA class I polymorphisms are associated with development of infectious mononucleosis upon primary EBV infection
-
McAulay KA, Higgins CD, Macsween KF, et al. HLA class I polymorphisms are associated with development of infectious mononucleosis upon primary EBV infection. J Clin Invest 2007; 117: 3042-3048.
-
(2007)
J Clin Invest
, vol.117
, pp. 3042-3048
-
-
McAulay, K.A.1
Higgins, C.D.2
Macsween, K.F.3
-
27
-
-
0035884670
-
Susceptibility to primary Epstein-Barr virus infection is associated with interleukin-10 gene promoter polymorphism
-
Helminen ME, Kilpinen S, Virta M, et al. Susceptibility to primary Epstein-Barr virus infection is associated with interleukin-10 gene promoter polymorphism. J Infect Dis 2001; 184: 777-780.
-
(2001)
J Infect Dis
, vol.184
, pp. 777-780
-
-
Helminen, M.E.1
Kilpinen, S.2
Virta, M.3
-
28
-
-
33846025802
-
Tumor necrosis factor alpha promoter polymorphism associated with increased susceptibility to secondary hemophagocytic lymphohistiocytosis in the Korean population
-
Chang YH, Lee DS, Jo HS, et al. Tumor necrosis factor alpha promoter polymorphism associated with increased susceptibility to secondary hemophagocytic lymphohistiocytosis in the Korean population. Cytokine 2006; 36: 45-50.
-
(2006)
Cytokine
, vol.36
, pp. 45-50
-
-
Chang, Y.H.1
Lee, D.S.2
Jo, H.S.3
|