Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency

被引:56
作者
Seidel, Markus G. [1 ]
Hirschmugl, Tatjana [5 ]
Gamez-Diaz, Laura [6 ]
Schwinger, Wolfgang [1 ]
Serwas, Nina [5 ]
Deutschmann, Andrea [2 ]
Gorkiewicz, Gregor [3 ]
Zenz, Werner [2 ]
Windpassinger, Christian [4 ]
Grimbacher, Bodo [6 ]
Urban, Christian [1 ]
Boztug, Kaan [5 ,7 ]
机构
[1] Med Univ Graz, Dept Pediat & Adolescent Med, Div Pediat Hematol Oncol, Graz, Austria
[2] Med Univ Graz, Dept Pediat & Adolescent Med, Div Gen Pediat, Graz, Austria
[3] Med Univ Graz, Inst Pathol, Graz, Austria
[4] Med Univ Graz, Inst Human Genet, Graz, Austria
[5] Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1010 Vienna, Austria
[6] Univ Med Ctr, Ctr Chron Immunodeficiency, Freiburg, Germany
[7] Med Univ Vienna, Dept Pediat & Adolescent Med, Vienna, Austria
基金
奥地利科学基金会;
关键词
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; PRIMARY BILIARY-CIRRHOSIS; COMBINED IMMUNODEFICIENCY; IMMUNE-DEFICIENCY; DISEASE; GENE; BLOOD; MANIFESTATIONS; EXPRESSION; TOLERANCE;
D O I
10.1016/j.jaci.2014.10.048
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:1384 / +
页数:15
相关论文
共 43 条
[1]   Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency [J].
Al-Herz, Waleed ;
Bousfiha, Aziz ;
Casanova, Jean-Laurent ;
Chatila, Talal ;
Conley, Mary Ellen ;
Cunningham-Rundles, Charlotte ;
Etzioni, Amos ;
Franco, Jose Luis ;
Gaspar, H. Bobby ;
Holland, Steven M. ;
Klein, Christoph ;
Nonoyama, Shigeaki ;
Ochs, Hans D. ;
Oksenhendler, Erik ;
Picard, Capucine ;
Puck, Jennifer M. ;
Sullivan, Kate ;
Tang, Mimi L. K. .
FRONTIERS IN IMMUNOLOGY, 2014, 5
[2]   LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency [J].
Alangari, Abdullah ;
Alsultan, Abdulrahman ;
Adly, Nouran ;
Massaad, Michel J. ;
Kiani, Iram Shakir ;
Aljebreen, Abdulrahman ;
Raddaoui, Emad ;
Almomen, Abdul-Kareem ;
Al-Muhsen, Saleh ;
Geha, Raif S. ;
Alkuraya, Fowzan S. .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2012, 130 (02) :481-+
[3]   Ten warning signs of primary immunodeficiency: a new paradigm is needed for the 21st century [J].
Arkwright, Peter D. ;
Gennery, Andrew R. .
YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY I, 2011, 1238 :7-14
[4]   Autologous Hematopoietic Stem Cell Transplantation for Autoimmune Disease-Is It Now Ready for Prime Time? [J].
Atkins, Harold L. ;
Muraro, Paolo A. ;
van Laar, Jacob M. ;
Pavletic, Steven Z. .
BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION, 2012, 18 (01) :S177-S183
[5]   LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia [J].
Burns, Siobhan O. ;
Zenner, Helen L. ;
Plagnol, Vincent ;
Curtis, James ;
Mok, Kin ;
Eisenhut, Michael ;
Kumararatne, Dinakantha ;
Doffinger, Rainer ;
Thrasher, Adrian J. ;
Nejentsev, Sergey .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2012, 130 (06) :1428-1432
[6]   CHRONIC LYMPHADENOPATHY SIMULATING MALIGNANT LYMPHOMA [J].
CANALE, VC ;
SMITH, CH .
JOURNAL OF PEDIATRICS, 1967, 70 (06) :891-+
[7]   Implications of genome-wide association studies in novel therapeutics in primary biliary cirrhosis [J].
Carbone, Marco ;
Lleo, Ana ;
Sandford, Richard N. ;
Invernizzi, Pietro .
EUROPEAN JOURNAL OF IMMUNOLOGY, 2014, 44 (04) :945-954
[8]   Autoimmune manifestations in common variable immunodeficiency [J].
Cunningham-Rundles, C. .
JOURNAL OF CLINICAL IMMUNOLOGY, 2008, 28 (Suppl 1) :S42-S45
[9]   Hyper-IgM syndromes [J].
Durandy, Anne ;
Peron, Sophie ;
Fischer, Alain .
CURRENT OPINION IN RHEUMATOLOGY, 2006, 18 (04) :369-376
[10]   Interdisciplinary AWMF Guideline for the Diagnostics of Primary Immunodeficiency [J].
Farmand, S. ;
Baumann, U. ;
von Bernuth, H. ;
Borte, M. ;
Foerster-Waldl, E. ;
Franke, K. ;
Habermehl, P. ;
Kapaun, P. ;
Klock, G. ;
Liese, J. ;
Marks, R. ;
Mueller, R. ;
Nebe, T. ;
Niehues, T. ;
Schuster, V. ;
Warnatz, K. ;
Witte, T. ;
Ehl, S. ;
Schulze, I. .
KLINISCHE PADIATRIE, 2011, 223 (06) :378-385