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Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.

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作者单位: Research Unit for Pediatric Hematology and Immunology, Medical University Graz, Graz, Austria; Division of Pediatric Hemato-Oncology, Department of Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria. [1] Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran. [2] Department of Bone Marrow Transplantation, Hadassah, Hebrew University Medical Centre, Jerusalem, Israel; Garvan Institute of Medical Research, Department of Immunology, Darlinghurst, Australia. [3] Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria. [4] Bone Marrow Transplantation Unit, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus. [5] Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus. [6] Faculty of Medicine, Pediatric Immunology and Allergy Division, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey. [7] Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain; Jeffrey Modell Foundation Excellence Center, Barcelona, Spain. [8] Department of Pediatric Gastroenterology, Antwerp University Hospital, Edegem, and Laboratory of Experimental Medicine and Pediatrics, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium. [9] Primary Immune Deficiency Research Lab and Department of Internal Medicine and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium. [10] Immunodeficiencies Unit, Hospital 12 de Octubre, Research Institute Hospital 12 Octubre (i+12), Madrid, Spain. [11] Infectious Diseases and Immunodeficiencies Unit, Service of Pediatrics, Hospital Universitario Virgen de las Nieves, Granada, Spain. [12] Immunology, the Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia. [13] Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran. [14] Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden. [15] Department of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey. [16] Department of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; CeMM Research Center for Molecular Medicine, Austrian Academy of Sciences, Vienna, Austria. [17] Pediatric Immunology-Rheumatology, Medical Faculty Department of Pediatrics, Uludag University Bursa, Bursa, Turkey. [18] Ege University Faculty of Medicine, Department of Pediatric Immunology, Izmir, Turkey. [19] Children's Hospital, Vivantes Berlin Friedrichshain, Berlin, Germany. [20] Department of Immunology, University Hospital Zurich and University of Zurich, Zurich, Switzerland. [21] Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Necmettin Erbakan University, Konya, Turkey. [22] Department of Bone Marrow Transplantation, Hadassah, Hebrew University Medical Centre, Jerusalem, Israel. [23] Institute of Child Health, University College London, London, United Kingdom. [24] Department of Pediatric Immunology and Infectious Diseases, Wilhelmina Children's Hospital, UMC Utrecht, The Netherlands. [25] Department of Pediatric Hematology and Oncology, Center for Pediatrics, Medical Center-University of Freiburg, Freiburg, Germany. [26] Department of Pediatrics, University Hospitals Leuven, and the Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium. [27] Sidra Medicine/Hamad Medical Corporation, Doha, Qatar. [28] Pediatric Hematology-Oncology Unit, Department of Women's and Children's Health, Azienda Ospedaliera-University of Padova, Padova, Italy. [29] Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Ill. [30] Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. [31] Department of Pediatric Endocrinology, Diabetes and Metabolism, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia. [32] Division for Stem Cell Transplantation and Immunology, University Hospital Frankfurt, Frankfurt, Germany. [33] Immuno-Hémato-Rhumatologie Pédiatrique, Service de Pédiatrie, CHR Citadelle, Liege, Belgium. [34] Childhood Cancer Research Unit, Department of Women's and Children's Health and Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institute, Karolinska University Hospital Solna, Stockholm, Sweden. [35] Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert-Ludwigs-University of Freiburg, Freiburg, Germany. [36] Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert-Ludwigs-University of Freiburg, Freiburg, Germany; DZIF-German Center for Infection Research, Satellite Center Freiburg, Freiburg, Germany; Centre for Integrative Biological Signalling Studies, Albert-Ludwigs University, Freiburg, Germany; RESIST-Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Freiburg, Germany. [37] Rare Diseases Center and Pediatric Research Center, Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland; Adult Immunodeficiency Unit, Inflammation Center, University of Helsinki, and HUS Helsinki University Hospital, Helsinki, Finland; Translational Immunology, Research Programs Unit and Clinicum, University of Helsinki, Helsinki, Finland. [38] Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands. [39] Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom. [40] Research Unit for Pediatric Hematology and Immunology, Medical University Graz, Graz, Austria; Division of Pediatric Hemato-Oncology, Department of Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria. Electronic address: markus.seidel@medunigraz.at. [41]
DOI 10.1016/j.jaci.2019.12.896
PMID 31887391
发布时间 2021-02-15
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