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Volumn 170, Issue , 2016, Pages 26-39

Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; CD2 ANTIGEN; CD3 ANTIGEN; CD4 ANTIGEN; CD5 ANTIGEN; CD7 ANTIGEN; CD8 ANTIGEN; FERRITIN; FIBRINOGEN; HEMOGLOBIN; LACTATE DEHYDROGENASE; LEUKOSIALIN; PERFORIN; PROTEIN; PROTEIN PCDH18; UNCLASSIFIED DRUG; CADHERIN; PCDH18 PROTEIN, HUMAN; PRF1 PROTEIN, HUMAN;

EID: 84960801029     PISSN: 19315244     EISSN: 18781810     Source Type: Journal    
DOI: 10.1016/j.trsl.2015.12.004     Document Type: Article
Times cited : (11)

References (36)
  • 1
    • 77950656593 scopus 로고    scopus 로고
    • Molecular basis of familial hemophagocytic lymphohistiocytosis
    • V. Cetica, D. Pende, G.M. Griffiths, and M. Arico Molecular basis of familial hemophagocytic lymphohistiocytosis Haematologica 95 2010 538 541
    • (2010) Haematologica , vol.95 , pp. 538-541
    • Cetica, V.1    Pende, D.2    Griffiths, G.M.3    Arico, M.4
  • 2
    • 42049086504 scopus 로고    scopus 로고
    • Hemophagocytic lymphohistiocytosis and other hemophagocytic disorders
    • viii
    • A.H. Filipovich Hemophagocytic lymphohistiocytosis and other hemophagocytic disorders Immunol Allergy Clin North Am 28 2008 293 313 viii
    • (2008) Immunol Allergy Clin North Am , vol.28 , pp. 293-313
    • Filipovich, A.H.1
  • 3
    • 84855932987 scopus 로고    scopus 로고
    • Familial and acquired hemophagocytic lymphohistiocytosis
    • G.E. Janka Familial and acquired hemophagocytic lymphohistiocytosis Annu Rev Med 63 2012 233 246
    • (2012) Annu Rev Med , vol.63 , pp. 233-246
    • Janka, G.E.1
  • 4
    • 0033520970 scopus 로고    scopus 로고
    • Perforin gene defects in familial hemophagocytic lymphohistiocytosis
    • S.E. Stepp, R. Dufourcq-Lagelouse, F. Le Deist, and et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis Science 286 1999 1957 1959
    • (1999) Science , vol.286 , pp. 1957-1959
    • Stepp, S.E.1    Dufourcq-Lagelouse, R.2    Le Deist, F.3
  • 5
    • 33748796888 scopus 로고    scopus 로고
    • Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection
    • E. Mancebo, L.M. Allende, M. Guzman, and et al. Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection Haematologica 91 2006 1257 1260
    • (2006) Haematologica , vol.91 , pp. 1257-1260
    • Mancebo, E.1    Allende, L.M.2    Guzman, M.3
  • 6
    • 34249812697 scopus 로고    scopus 로고
    • Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations
    • I. Ueda, Y. Kurokawa, K. Koike, and et al. Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations Am J Hematol 82 2007 427 432
    • (2007) Am J Hematol , vol.82 , pp. 427-432
    • Ueda, I.1    Kurokawa, Y.2    Koike, K.3
  • 7
    • 0037105371 scopus 로고    scopus 로고
    • Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations
    • R. Clementi, L. Emmi, R. Maccario, and et al. Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations Blood 100 2002 2266 2267
    • (2002) Blood , vol.100 , pp. 2266-2267
    • Clementi, R.1    Emmi, L.2    MacCario, R.3
  • 8
    • 84860451919 scopus 로고    scopus 로고
    • Protocadherin-18 is a novel differentiation marker and an inhibitory signaling receptor for CD8+ effector memory T cells
    • E.J. Vazquez-Cintron, N.R. Monu, J.C. Burns, and et al. Protocadherin-18 is a novel differentiation marker and an inhibitory signaling receptor for CD8+ effector memory T cells PLoS One 7 2012 e36101
    • (2012) PLoS One , vol.7 , pp. e36101
    • Vazquez-Cintron, E.J.1    Monu, N.R.2    Burns, J.C.3
  • 9
    • 0026065540 scopus 로고
    • Diagnostic guidelines for hemophagocytic lymphohistiocytosis. The FHL Study Group of the Histiocyte Society
    • J.I. Henter, G. Elinder, and A. Ost Diagnostic guidelines for hemophagocytic lymphohistiocytosis. The FHL Study Group of the Histiocyte Society Semin Oncol 18 1991 29 33
    • (1991) Semin Oncol , vol.18 , pp. 29-33
    • Henter, J.I.1    Elinder, G.2    Ost, A.3
  • 10
    • 33845619137 scopus 로고    scopus 로고
    • HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis
    • J.I. Henter, A. Horne, M. Arico, and et al. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis Pediatr Blood Cancer 48 2007 124 131
    • (2007) Pediatr Blood Cancer , vol.48 , pp. 124-131
    • Henter, J.I.1    Horne, A.2    Arico, M.3
  • 11
    • 84880949357 scopus 로고    scopus 로고
    • Detection of necrosis by release of lactate dehydrogenase activity
    • F.K. Chan, K. Moriwaki, and M.J. De Rosa Detection of necrosis by release of lactate dehydrogenase activity Methods Mol Biol 979 2013 65 70
    • (2013) Methods Mol Biol , vol.979 , pp. 65-70
    • Chan, F.K.1    Moriwaki, K.2    De Rosa, M.J.3
  • 12
    • 84892377126 scopus 로고    scopus 로고
    • Comparison of high resolution melting analysis, pyrosequencing, next generation sequencing and immunohistochemistry to conventional Sanger sequencing for the detection of p.V600E and non-p.V600E BRAF mutations
    • M.A. Ihle, J. Fassunke, K. Konig, and et al. Comparison of high resolution melting analysis, pyrosequencing, next generation sequencing and immunohistochemistry to conventional Sanger sequencing for the detection of p.V600E and non-p.V600E BRAF mutations BMC Cancer 14 2014 13
    • (2014) BMC Cancer , vol.14 , pp. 13
    • Ihle, M.A.1    Fassunke, J.2    Konig, K.3
  • 13
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • P. Kumar, S. Henikoff, and P.C. Ng Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm Nat Protoc 4 2009 1073 1081
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 14
    • 0035026704 scopus 로고    scopus 로고
    • Predicting deleterious amino acid substitutions
    • P.C. Ng, and S. Henikoff Predicting deleterious amino acid substitutions Genome Res 11 2001 863 874
    • (2001) Genome Res , vol.11 , pp. 863-874
    • Ng, P.C.1    Henikoff, S.2
  • 15
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • I.A. Adzhubei, S. Schmidt, L. Peshkin, and et al. A method and server for predicting damaging missense mutations Nat Methods 7 2010 248 249
    • (2010) Nat Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3
  • 16
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: Server and survey
    • V. Ramensky, P. Bork, and S. Sunyaev Human non-synonymous SNPs: server and survey Nucleic Acids Res 30 2002 3894 3900
    • (2002) Nucleic Acids Res , vol.30 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 18
    • 84881309795 scopus 로고    scopus 로고
    • Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients
    • O. An, A. Gursoy, A. Gurgey, and O. Keskin Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients Protein Sci 22 2013 823 839
    • (2013) Protein Sci , vol.22 , pp. 823-839
    • An, O.1    Gursoy, A.2    Gurgey, A.3    Keskin, O.4
  • 19
    • 6344240464 scopus 로고    scopus 로고
    • Blocking programmed death-1 ligand-PD-1 interactions by local gene therapy results in enhancement of antitumor effect of secondary lymphoid tissue chemokine
    • Y.F. He, G.M. Zhang, X.H. Wang, and et al. Blocking programmed death-1 ligand-PD-1 interactions by local gene therapy results in enhancement of antitumor effect of secondary lymphoid tissue chemokine J Immunol 173 2004 4919 4928
    • (2004) J Immunol , vol.173 , pp. 4919-4928
    • He, Y.F.1    Zhang, G.M.2    Wang, X.H.3
  • 20
    • 84907348494 scopus 로고    scopus 로고
    • Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis
    • K. Zhang, S. Chandrakasan, H. Chapman, and et al. Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis Blood 124 2014 1331 1334
    • (2014) Blood , vol.124 , pp. 1331-1334
    • Zhang, K.1    Chandrakasan, S.2    Chapman, H.3
  • 21
    • 2942627114 scopus 로고    scopus 로고
    • Atypical features of familial hemophagocytic lymphohistiocytosis
    • R. Busiello, M. Adriani, F. Locatelli, and et al. Atypical features of familial hemophagocytic lymphohistiocytosis Blood 103 2004 4610 4612
    • (2004) Blood , vol.103 , pp. 4610-4612
    • Busiello, R.1    Adriani, M.2    Locatelli, F.3
  • 22
    • 21144435788 scopus 로고    scopus 로고
    • A proportion of patients with lymphoma may harbor mutations of the perforin gene
    • R. Clementi, F. Locatelli, L. Dupre, and et al. A proportion of patients with lymphoma may harbor mutations of the perforin gene Blood 105 2005 4424 4428
    • (2005) Blood , vol.105 , pp. 4424-4428
    • Clementi, R.1    Locatelli, F.2    Dupre, L.3
  • 23
    • 0036277746 scopus 로고    scopus 로고
    • Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis
    • J. Feldmann, F. Le Deist, M. Ouachee-Chardin, and et al. Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis Br J Haematol 117 2002 965 972
    • (2002) Br J Haematol , vol.117 , pp. 965-972
    • Feldmann, J.1    Le Deist, F.2    Ouachee-Chardin, M.3
  • 24
    • 0035092422 scopus 로고    scopus 로고
    • Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis
    • K. Goransdotter Ericson, B. Fadeel, S. Nilsson-Ardnor, and et al. Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis Am J Hum Genet 68 2001 590 597
    • (2001) Am J Hum Genet , vol.68 , pp. 590-597
    • Goransdotter Ericson, K.1    Fadeel, B.2    Nilsson-Ardnor, S.3
  • 25
    • 0036095443 scopus 로고    scopus 로고
    • Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members
    • K. Kogawa, S.M. Lee, J. Villanueva, D. Marmer, J. Sumegi, and A.H. Filipovich Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members Blood 99 2002 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    Filipovich, A.H.6
  • 26
    • 33746138137 scopus 로고    scopus 로고
    • Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation
    • S.M. Lee, J. Sumegi, J. Villanueva, and et al. Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation J Pediatr 149 2006 134 137
    • (2006) J Pediatr , vol.149 , pp. 134-137
    • Lee, S.M.1    Sumegi, J.2    Villanueva, J.3
  • 27
    • 1242292327 scopus 로고    scopus 로고
    • Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis
    • S. Molleran Lee, J. Villanueva, J. Sumegi, and et al. Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis J Med Genet 41 2004 137 144
    • (2004) J Med Genet , vol.41 , pp. 137-144
    • Molleran Lee, S.1    Villanueva, J.2    Sumegi, J.3
  • 28
    • 31044453814 scopus 로고    scopus 로고
    • Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis
    • K.A. Risma, R.W. Frayer, A.H. Filipovich, and J. Sumegi Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis J Clin Invest 116 2006 182 192
    • (2006) J Clin Invest , vol.116 , pp. 182-192
    • Risma, K.A.1    Frayer, R.W.2    Filipovich, A.H.3    Sumegi, J.4
  • 29
    • 0036181273 scopus 로고    scopus 로고
    • Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan
    • N. Suga, H. Takada, A. Nomura, and et al. Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan Br J Haematol 116 2002 346 349
    • (2002) Br J Haematol , vol.116 , pp. 346-349
    • Suga, N.1    Takada, H.2    Nomura, A.3
  • 30
    • 0038692336 scopus 로고    scopus 로고
    • Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan
    • I. Ueda, A. Morimoto, T. Inaba, and et al. Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan Br J Haematol 121 2003 503 510
    • (2003) Br J Haematol , vol.121 , pp. 503-510
    • Ueda, I.1    Morimoto, A.2    Inaba, T.3
  • 31
    • 29944442846 scopus 로고    scopus 로고
    • Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: Molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A
    • U. Zur Stadt, K. Beutel, S. Kolberg, and et al. Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A Hum Mutat 27 2006 62 68
    • (2006) Hum Mutat , vol.27 , pp. 62-68
    • Zur Stadt, U.1    Beutel, K.2    Kolberg, S.3
  • 32
    • 84892613763 scopus 로고    scopus 로고
    • A novel PRF1 gene mutation in a fatal neonate case with type 2 familial hemophagocytic lymphohistiocytosis
    • J.Y. Kim, J.H. Shin, S.I. Sung, and et al. A novel PRF1 gene mutation in a fatal neonate case with type 2 familial hemophagocytic lymphohistiocytosis Korean J Pediatr 57 2014 50 53
    • (2014) Korean J Pediatr , vol.57 , pp. 50-53
    • Kim, J.Y.1    Shin, J.H.2    Sung, S.I.3
  • 33
    • 34548723841 scopus 로고    scopus 로고
    • Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis
    • K. Nagafuji, A. Nonami, T. Kumano, and et al. Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis Haematologica 92 2007 978 981
    • (2007) Haematologica , vol.92 , pp. 978-981
    • Nagafuji, K.1    Nonami, A.2    Kumano, T.3
  • 34
    • 84864918551 scopus 로고    scopus 로고
    • Adult onset of primary hemophagocytic syndrome in subjects carrying PRF1 mutations
    • Y. Wang, Z. Wang, H. Chen, and X. Wang Adult onset of primary hemophagocytic syndrome in subjects carrying PRF1 mutations Ann Hematol 91 2012 1489 1490
    • (2012) Ann Hematol , vol.91 , pp. 1489-1490
    • Wang, Y.1    Wang, Z.2    Chen, H.3    Wang, X.4
  • 35
    • 77958151757 scopus 로고    scopus 로고
    • Fast kinase domain-containing protein 3 is a mitochondrial protein essential for cellular respiration
    • M. Simarro, A. Gimenez-Cassina, N. Kedersha, and et al. Fast kinase domain-containing protein 3 is a mitochondrial protein essential for cellular respiration Biochem Biophys Res Commun 401 2010 440 446
    • (2010) Biochem Biophys Res Commun , vol.401 , pp. 440-446
    • Simarro, M.1    Gimenez-Cassina, A.2    Kedersha, N.3
  • 36
    • 84861540139 scopus 로고    scopus 로고
    • HoxA10 protein regulates transcription of gene encoding fibroblast growth factor 2 (FGF2) in myeloid cells
    • C.A. Shah, L. Bei, H. Wang, L.C. Platanias, and E.A. Eklund HoxA10 protein regulates transcription of gene encoding fibroblast growth factor 2 (FGF2) in myeloid cells J Biol Chem 287 2012 18230 18248
    • (2012) J Biol Chem , vol.287 , pp. 18230-18248
    • Shah, C.A.1    Bei, L.2    Wang, H.3    Platanias, L.C.4    Eklund, E.A.5


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