Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation

被引:45
作者
Seidel, Markus G. [1 ]
Boehm, Katrin [1 ]
Dogu, Figen [2 ]
Worth, Austen [3 ]
Thrasher, Adrian [3 ]
Florkin, Benoit [4 ]
Ikinciogullari, Aydan [2 ]
Peters, Anke [5 ]
Bakhtiar, Shahrzad [7 ]
Meeths, Marie [8 ,9 ,10 ]
Stepensky, Polina [11 ]
Meyts, Isabelle [12 ]
Sharapova, Svetlana O. [13 ]
Gamez-Diaz, Laura [6 ]
Hammarstroem, Lennart [14 ]
Ehl, Stephan [5 ,6 ]
Grimbacher, Bodo [6 ]
Gennery, Andrew R. [15 ]
机构
[1] Med Univ Gwraz, Dept Pediat & Adolescent Med, Div Pediat Hematol Oncol, Res Unit Pediat Hematol & Immunol, Graz, Austria
[2] Ankara Univ, Sch Med, Dept Pediat Immunol & Allergy, Ankara, Turkey
[3] UCL, Inst Child Hlth, London, England
[4] CHR Citadelle, Serv Pediat, Immunohematorhumatol Pediat, Liege, Belgium
[5] Univ Freiburg, Dept Pediat & Adolescent Med, Freiburg, Germany
[6] Univ Freiburg, Med Ctr, Ctr Chron Immunodeficiency CCI, Freiburg, Germany
[7] Univ Hosp Frankfurt, Div Pediat Stem Cell Transplantat & Immunol, Frankfurt, Germany
[8] Karolinska Univ Hosp Solna, Childhood Canc Res Unit, Dept Womens & Childrens Hlth, Stockholm, Sweden
[9] Karolinska Univ Hosp Solna, Clin Genet Unit, Dept Mol Med & Surg, Stockholm, Sweden
[10] Karolinska Univ Hosp Solna, Karolinska Inst, Ctr Mol Med, Stockholm, Sweden
[11] Hadassah Hebrew Univ, Med Ctr, Dept Bone Marrow Transplantat, Jerusalem, Israel
[12] Katholieke Univ Leuven, Univ Hosp Leuven, Dept Pediat Immunol Microbiol & Immunol, Leuven, Belgium
[13] Belarusian Res Ctr Pediat Oncol Hematol & Immunol, Res Dept, Minsk, Minsk Region, BELARUS
[14] Karolinska Univ Hosp Huddinge, Karolinska Inst, Dept Lab Med, Div Clin Immunol, Stockholm, Sweden
[15] Newcastle Univ, Inst Cellular Med, Newcastle Upon Tyne, Tyne & Wear, England
关键词
LRBA; MUTATIONS;
D O I
10.1016/j.jaci.2017.04.023
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
[No abstract available]
引用
收藏
页码:770 / 775
页数:7
相关论文
共 9 条
[1]   Spectrum of Phenotypes Associated with Mutations in LRBA [J].
Alkhairy, Omar K. ;
Abolhassani, Hassan ;
Rezaei, Nima ;
Fang, Mingyan ;
Andersen, Kasper Krogh ;
Chavoshzadeh, Zahra ;
Mohammadzadeh, Iraj ;
El-Rajab, Mariam A. ;
Massaad, Michel ;
Chou, Janet ;
Aghamohammadi, Asghar ;
Geha, Raif S. ;
Hammarstrom, Lennart .
JOURNAL OF CLINICAL IMMUNOLOGY, 2016, 36 (01) :33-45
[2]   Treatment of Infantile Inflammatory Bowel Disease and Autoimmunity by Allogeneic Stem Cell Transplantation in LPS-Responsive Beige-Like Anchor Deficiency [J].
Bakhtiar, Shahrzad ;
Gamez-Diaz, Laura ;
Jarisch, Andrea ;
Soerensen, Jan ;
Grimbacher, Bodo ;
Belohradsky, Bernd ;
Keller, Klaus-Michael ;
Rietschel, Christoph ;
Klingebiel, Thomas ;
Koletzko, Sibylle ;
Albert, Michael H. ;
Bader, Peter .
FRONTIERS IN IMMUNOLOGY, 2017, 8
[3]   Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA [J].
Charbonnier, Louis-Marie ;
Janssen, Erin ;
Chou, Janet ;
Ohsumi, Toshiro K. ;
Keles, Sevgi ;
Hsu, Joyce T. ;
Massaad, Michel J. ;
Garcia-Lloret, Maria ;
Hanna-Wakim, Rima ;
Dbaibo, Ghassan ;
Alangari, Abdullah A. ;
Alsultan, Abdulrahman ;
Al-Zahrani, Daifulah ;
Geha, Raif S. ;
Chatila, Talal A. .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2015, 135 (01) :217-U336
[4]   The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency [J].
Gamez-Diaz, Laura ;
August, Dietrich ;
Stepensky, Polina ;
Revel-Vilk, Shoshana ;
Seidel, Markus G. ;
Noriko, Mitsuiki ;
Morio, Tomohiro ;
Worth, Austen J. J. ;
Blessing, Jacob ;
Van de Veerdonk, Frank ;
Feuchtinger, Tobias ;
Kanariou, Maria ;
Schmitt-Graeff, Annette ;
Jung, Sophie ;
Seneviratne, Suranjith ;
Burns, Siobhan ;
Belohradsky, Bernd H. ;
Rezaei, Nima ;
Bakhtiar, Shahrzad ;
Speckmann, Carsten ;
Jordan, Michael ;
Grimbacher, Bodo .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2016, 137 (01) :223-230
[5]   Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy [J].
Lo, Bernice ;
Zhang, Kejian ;
Lu, Wei ;
Zheng, Lixin ;
Zhang, Qian ;
Kanellopoulou, Chrysi ;
Zhang, Yu ;
Liu, Zhiduo ;
Fritz, Jill M. ;
Marsh, Rebecca ;
Husami, Ammar ;
Kissell, Diane ;
Nortman, Shannon ;
Chaturvedi, Vijaya ;
Haines, Hilary ;
Young, Lisa R. ;
Mo, Jun ;
Filipovich, Alexandra H. ;
Bleesing, Jack J. ;
Mustillo, Peter ;
Stephens, Michael ;
Rueda, Cesar M. ;
Chougnet, Claire A. ;
Hoebe, Kasper ;
McElwee, Joshua ;
Hughes, Jason D. ;
Karakoc-Aydiner, Elif ;
Matthews, Helen F. ;
Price, Susan ;
Su, Helen C. ;
Rao, V. Koneti ;
Lenardo, Michael J. ;
Jordan, Michael B. .
SCIENCE, 2015, 349 (6246) :436-440
[6]   Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity [J].
Lopez-Herrera, Gabriela ;
Tampella, Giacomo ;
Pan-Hammarstrom, Qiang ;
Herholz, Peer ;
Trujillo-Vargas, Claudia M. ;
Phadwal, Kanchan ;
Simon, Anna Katharina ;
Moutschen, Michel ;
Etzioni, Amos ;
Mory, Adi ;
Srugo, Izhak ;
Melamed, Doron ;
Hultenby, Kjell ;
Liu, Chonghai ;
Baronio, Manuela ;
Vitali, Massimiliano ;
Philippet, Pierre ;
Dideberg, Vinciane ;
Aghamohammadi, Asghar ;
Rezaei, Nima ;
Enright, Victoria ;
Du, Likun ;
Salzer, Ulrich ;
Eibel, Hermann ;
Pfeifer, Dietmar ;
Veelken, Hendrik ;
Stauss, Hans ;
Lougaris, Vassilios ;
Plebani, Alessandro ;
Gertz, E. Michael ;
Schaeffer, Alejandro A. ;
Hammarstrom, Lennart ;
Grimbacher, Bodo .
AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 90 (06) :986-1001
[7]   A Successful HSCT in a Girl with Novel LRBA Mutation with Refractory Celiac Disease [J].
Sari, Sinan ;
Dogu, Figen ;
Hwa, Vivian ;
Haskologlu, Sule ;
Dauber, Andrew ;
Rosenfeld, Ron ;
Polat, Meltem ;
Kuloglu, Zarife ;
Kansu, Aydan ;
Dalgic, Buket ;
Ikinciogullari, Aydan .
JOURNAL OF CLINICAL IMMUNOLOGY, 2016, 36 (01) :8-11
[8]   Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency [J].
Seidel, Markus G. ;
Hirschmugl, Tatjana ;
Gamez-Diaz, Laura ;
Schwinger, Wolfgang ;
Serwas, Nina ;
Deutschmann, Andrea ;
Gorkiewicz, Gregor ;
Zenz, Werner ;
Windpassinger, Christian ;
Grimbacher, Bodo ;
Urban, Christian ;
Boztug, Kaan .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2015, 135 (05) :1384-+
[9]   Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation [J].
Tesi, Bianca ;
Priftakis, Peter ;
Lindgren, Fredrik ;
Chiang, Samuel C. C. ;
Kartalis, Nikolaos ;
Lofstedt, Alexandra ;
Lorinc, Esther ;
Henter, Jan-Inge ;
Winiarski, Jacek ;
Bryceson, Yenan T. ;
Meeths, Marie .
JOURNAL OF CLINICAL IMMUNOLOGY, 2016, 36 (05) :480-489