메뉴 건너뛰기




Volumn 58, Issue 3, 2012, Pages 410-414

Screening the PRF1, UNC13D, STX11, SH2D1A, XIAP, and ITK gene mutations in Chinese children with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis

Author keywords

Epstein Barr virus; Gene mutation; ITK; PRF1; Primary hemophagocytic lymphohistiocytosis; SH2D1A; STX11; UNC13D; XIAP

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CHINESE; CONTROLLED STUDY; EPSTEIN BARR VIRUS INFECTION; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HUMAN; ITK GENE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRF1 GENE; PRIORITY JOURNAL; SH2D1A GENE; STX11 GENE; UNC13D GENE; XIAP GENE;

EID: 84855788714     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.23216     Document Type: Article
Times cited : (37)

References (28)
  • 2
    • 0033364525 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 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, 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.