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Volumn 124, Issue 8, 2014, Pages 1331-1334

Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis

Author keywords

[No Author keywords available]

Indexed keywords

LYSOSOME ASSOCIATED MEMBRANE PROTEIN 1; MUCIN 13; PERFORIN; PROTEIN; RAB27A PROTEIN; STXBP2 PROTEIN; UNCLASSIFIED DRUG;

EID: 84907348494     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2014-05-573105     Document Type: Article
Times cited : (113)

References (19)
  • 1
    • 80255138203 scopus 로고    scopus 로고
    • The expanding spectrum of hemophagocytic lymphohistiocytosis
    • Filipovich AH. The expanding spectrum of hemophagocytic lymphohistiocytosis. Curr Opin Allergy Clin Immunol. 2011;11(6):512-516.
    • (2011) Curr Opin Allergy Clin Immunol , vol.11 , Issue.6 , pp. 512-516
    • Filipovich, A.H.1
  • 2
    • 84886727845 scopus 로고    scopus 로고
    • Hemophagocytic lymphohistiocytosis: Advances in pathophysiology, diagnosis, and treatment
    • Chandrakasan S, Filipovich AH. Hemophagocytic lymphohistiocytosis: advances in pathophysiology, diagnosis, and treatment. J Pediatr. 2013;163(5):1253-1259.
    • (2013) J Pediatr , vol.163 , Issue.5 , pp. 1253-1259
    • Chandrakasan, S.1    Filipovich, A.H.2
  • 3
    • 33845199637 scopus 로고    scopus 로고
    • Perforin-mediated target-cell death and immune homeostasis
    • DOI 10.1038/nri1983, PII NRI1983
    • Voskoboinik I, Smyth MJ, Trapani JA. Perforin-mediated target-cell death and immune homeostasis. Nat Rev Immunol. 2006;6(12):940-952. (Pubitemid 44851736)
    • (2006) Nature Reviews Immunology , vol.6 , Issue.12 , pp. 940-952
    • Voskoboinik, I.1    Smyth, M.J.2    Trapani, J.A.3
  • 5
    • 70350500464 scopus 로고    scopus 로고
    • 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, et al. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Am J Hum Genet. 2009;85(4):482-492.
    • (2009) Am J Hum Genet , vol.85 , Issue.4 , pp. 482-492
    • Zur Stadt, U.1    Rohr, J.2    Seifert, W.3
  • 7
    • 77954956416 scopus 로고    scopus 로고
    • Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules
    • de Saint Basile G, Ménasché G, Fischer A. Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules. Nat Rev Immunol. 2010;10(8):568-579.
    • (2010) Nat Rev Immunol , vol.10 , Issue.8 , pp. 568-579
    • De Saint Basile, G.1    Ménasché, G.2    Fischer, A.3
  • 8
    • 33749349937 scopus 로고    scopus 로고
    • 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
    • DOI 10.1182/blood-2006-04-015693
    • 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. (Pubitemid 44497515)
    • (2006) Blood , vol.108 , Issue.7 , pp. 2316-2323
    • Marcenaro, S.1    Gallo, F.2    Martini, S.3    Santoro, A.4    Griffiths, G.M.5    Arico, M.6    Moretta, L.7    Pende, D.8
  • 10
    • 82155184541 scopus 로고    scopus 로고
    • Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH
    • Zhang K, Jordan MB, Marsh RA, 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
  • 11
    • 0036844229 scopus 로고    scopus 로고
    • Multiple hits during early embryonic development: Digenic diseases and holoprosencephaly
    • DOI 10.1086/344412
    • Ming JE, Muenke M. Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am J Hum Genet. 2002;71(5):1017-1032. (Pubitemid 35305222)
    • (2002) American Journal of Human Genetics , vol.71 , Issue.5 , pp. 1017-1032
    • Ming, J.E.1    Muenke, M.2
  • 12
    • 84890145395 scopus 로고    scopus 로고
    • Digenic inheritance in medical genetics
    • Schäffer AA. Digenic inheritance in medical genetics. J Med Genet. 2013;50(10):641-652.
    • (2013) J Med Genet , vol.50 , Issue.10 , pp. 641-652
    • Schäffer, A.A.1
  • 14
    • 0036095443 scopus 로고    scopus 로고
    • Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members
    • Kogawa K, Lee SM, Villanueva J, Marmer D, Sumegi J, Filipovich AH. Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members. Blood. 2002;99(1):61-66.
    • (2002) Blood , vol.99 , Issue.1 , pp. 61-66
    • Kogawa, K.1    Lee, S.M.2    Villanueva, J.3    Marmer, D.4    Sumegi, J.5    Filipovich, A.H.6
  • 15
    • 1242292327 scopus 로고    scopus 로고
    • Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis
    • Molleran Lee S, Villanueva J, Sumegi J, et al. Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis. J Med Genet. 2004;41(2):137-144. (Pubitemid 38221753)
    • (2004) Journal of Medical Genetics , vol.41 , Issue.2 , pp. 137-144
    • Molleran, L.S.1    Villanueva, J.2    Sumegi, J.3    Zhang, K.4    Kogawa, K.5    Davis, J.6    Filipovich, A.H.7
  • 16
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • DOI 10.1093/nar/gkg509
    • Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003;31(13):3812-3814. (Pubitemid 37442253)
    • (2003) Nucleic Acids Research , vol.31 , Issue.13 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 17
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: Server and survey
    • Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 2002;30(17):3894-3900. (Pubitemid 35012462)
    • (2002) Nucleic Acids Research , vol.30 , Issue.17 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 18
    • 0016197604 scopus 로고
    • Amino acid difference formula to help explain protein evolution
    • Grantham R. Amino acid difference formula to help explain protein evolution. Science. 1974;185(4154):862-864.
    • (1974) Science , vol.185 , Issue.4154 , pp. 862-864
    • Grantham, R.1
  • 19
    • 25844464180 scopus 로고    scopus 로고
    • Cytolytic granule polarization and degranulation controlled by different receptors in resting NK cells
    • DOI 10.1084/jem.20051143
    • Bryceson YT, March ME, Barber DF, Ljunggren HG, Long EO. Cytolytic granule polarization and degranulation controlled by different receptors in resting NK cells. J Exp Med. 2005;202(7):1001-1012. (Pubitemid 41396899)
    • (2005) Journal of Experimental Medicine , vol.202 , Issue.7 , pp. 1001-1012
    • Bryceson, Y.T.1    March, M.E.2    Barber, D.F.3    Ljunggren, H.-G.4    Long, E.O.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.