Functional characterisation of Munc18-2 missense mutations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)

被引：0
|
作者：
Koch, F. [1 ]
Pagel, J. [1 ]
Ehl, S. [3 ]
Griffiths, G. [4 ]
Hennies, H. C. [5 ,6 ]
Beutel, K. [2 ]
Horstmann, M. [1 ,2 ]
zur Stadt, U. [1 ,2 ]
机构：
[1] Forschungsinst Kinderkrebs Zentrum Hamburg, D-20251 Hamburg, Germany
[2] Univ Klinikum Hamburg Eppendorf, Klin Padiat Haematol & Onkol, D-20246 Hamburg, Germany
[3] Univ Freiburg, Zentrum Chron Immundefizienz, D-79106 Freiburg, Germany
[4] Addenbrookes Hosp, Cambridge Inst Med Res, Cambridge CB2 OXY, England
[5] Univ Cologne, Zentrum Funkt Genomforsch, D-50674 Cologne, Germany
[6] Univ Cologne, Zentrum Mol Med, D-50931 Cologne, Germany
来源：
KLINISCHE PADIATRIE | 2010年 / 222卷 / 03期
关键词：
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
39
引用
收藏
页码：223 / 223
页数：1
相关论文
共 50 条
  • [1] 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.
    Koch, F.
    Grieve, S.
    Pagel, J.
    Strauss, J.
    Kasper, B.
    Nuernberg, G.
    Becker, C.
    Maul-Pavicic, A.
    Beutel, K.
    Janka, G.
    Griffiths, G.
    Ehl, S.
    Hennies, H. C.
    EUROPEAN JOURNAL OF PEDIATRICS, 2010, 169 (03) : 393 - 393
  • [2] Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11
    zur Stadt, Udo
    Rohr, Jan
    Seifert, Wenke
    Koch, Florian
    Grieve, Samantha
    Pagel, Julia
    Strauss, Julia
    Kasper, Brigitte
    Nuernberg, Gudrun
    Becker, Christian
    Maul-Pavicic, Andrea
    Beutel, Karin
    Janka, Gritta
    Griffiths, Gillian
    Ehl, Stephan
    Hennies, Hans Christian
    AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 85 (04) : 482 - 492
  • [3] MUNC18-2 MISSENSE MUTATIONS ARE ASSOCIATED WITH ONSET OF DISEASE DURING INFANCY IN FHL-5 PATIENTS
    Pagel, J.
    Lehmberg, K.
    Koch, F.
    Janka, G.
    Hennies, H. C.
    Ehl, S.
    Griffiths, G. M.
    Beutel, K.
    zur Stadt, U.
    PEDIATRIC BLOOD & CANCER, 2011, 56 (04) : 702 - 703
  • [4] Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2/Munc18-2 mutations
    Zhao, Xi Wen
    Gazendam, Roel P.
    Drewniak, Agata
    van Houdt, Michel
    Tool, Anton T. J.
    van Hamme, John L.
    Kustiawan, Iwan
    Meijer, Alexander B.
    Janssen, Hans
    Russell, David G.
    van de Corput, Lisette
    Tesselaar, Kiki
    Boelens, Jaap J.
    Kuhnle, Ingrid
    Ten Bosch, Jutte Van der Werff
    Kuijpers, Taco W.
    van den Berg, Timo K.
    BLOOD, 2013, 122 (01) : 109 - 111
  • [5] DEFECTS IN NEUTROPHIL GRANULE FUSION AND BACTERICIDAL ACTIVITY IN FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 5 (FHL-5) SYNDROME CAUSED BY STXBP2/MUNC18-2 MUTATION
    Zhao, X. W.
    Drewniak, A.
    Gazendam, R.
    van Houdt, M.
    Tool, A. J.
    van Hamme, J. L.
    Janssen, H.
    van de Corput, L.
    Tesselaar, K.
    Kuijpers, T. W.
    Boelens, J. J.
    Kuhnle, I.
    van den Berg, T. K.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2012, 32 : 394 - 394
  • [6] DEFECTS IN NEUTROPHIL GRANULE MOBILIZATION AND BACTERICIDAL ACTIVITY IN FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 5 (FHL-5) SYNDROME CAUSED BY STXBP2/MUNC18-2 MUTATION
    Van den Berg, T. K.
    Zhao, X. W.
    Drewniak, A.
    Gazendam, R.
    Van Houdt, M.
    Tool, A.
    Van Hamme, J.
    Janssen, H.
    Van de Corput, L.
    Tesselaar, K.
    Kuijpers, T. W.
    Henter, J-I.
    Boelens, J.
    Kuehnle, I.
    Bryceson, Y.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2012, 32 : 89 - 89
  • [7] Platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)
    Sandrock, Kirstin
    Nakamura, Lea
    Vraetz, Thomas
    Beutel, Karin
    Ehl, Stephan
    Zieger, Barbara
    BLOOD, 2010, 116 (26) : 6148 - 6150
  • [8] HOMOZYGOUS DELETION IN STXBP2 CAUSATIVE OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 5 (FHL-5)
    Cetica, Valentina
    Sieni, Elena
    Ciambotti, Benedetta
    Coniglio, Maria Luisa
    Da Ros, Martina
    Rizzari, Carmelo
    Biondi, Andrea
    Pantaleo, Marilena
    Giglio, Sabrina
    Grieve, Sam
    Griffiths, Gillian
    Arico, Maurizio
    PEDIATRIC BLOOD & CANCER, 2015, 62 : S4 - S4
  • [9] STXBP2 (MUNC18-2) MUTATIONS IN NORTH AMERICAN PATIENTS WITH FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS
    Johnson, Judith
    Huizenga, Kelly
    Kissell, Diane
    Jordan, Michael
    ZurStadt, Udo
    Filipovich, Alexandra
    Zhang, Kejian
    PEDIATRIC BLOOD & CANCER, 2010, 54 (06) : 817 - 817
  • [10] Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations
    Stepensky, Polina
    Bartram, Jack
    Barth, Thomas F.
    Lehmberg, Kai
    Walther, Paul
    Amann, Kerstin
    Philips, Alan D.
    Beringer, Ortraud
    Zur Stadt, Udo
    Schulz, Ansgar
    Amrolia, Persis
    Weintraub, Michael
    Debatin, Klaus-Michael
    Hoenig, Manfred
    Posovszky, Carsten
    PEDIATRIC BLOOD & CANCER, 2013, 60 (07) : 1215 - 1222
12345