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Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study
Authors:Federica Barzaghi  Laura Cristina Amaya Hernandez  Benedicte Neven  Silvia Ricci  Zeynep Yesim Kucuk  Jack J Bleesing  Zohreh Nademi  Mary Anne Slatter  Erlinda Rose Ulloa  Anna Shcherbina  Anna Roppelt  Austen Worth  Juliana Silva  Alessandro Aiuti  Luis Murguia-Favela  Carsten Speckmann  Magda Carneiro-Sampaio  Juliana Folloni Fernandes  Rosa Bacchetta
Institution:1. San Raffaele Telethon Institute for Gene Therapy, Pediatric Immunohematology and Bone Marrow Transplantation Unit, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Scientific Institute, Milan, Italy;2. Division of Stem Cell Transplantation and Regenerative Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, Calif;3. Paediatric Immunology, Haematology and Rheumatology Department, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris Descartes–Université Sorbonne Paris Cité, Institut Imagine, Paris, France;w. Pediatric Gastroenterology unit, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris Descartes–Université Sorbonne Paris Cité, Paris, France;z. Biotherapy Department, Necker-Enfants Malades University Hospital, Paris Descartes -Université Sorbonne Paris Cité, Institut Imagine, Paris, France;x. Hematology Unit, Robert Debré Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France;4. Pediatric Immunology, “Anna Meyer” Children''s Hospital, Florence, Italy;s. Department of Hematology-Oncology: Bone Marrow Transplant (BMT) Unit, “Anna Meyer” Children''s Hospital, Florence, Italy;t. Gastroenterology Unit, University of Florence, Department of “NEUROFARBA”: Section of Child''s Health, “Anna Meyer” Children''s Hospital, Florence, Italy;5. Bone Marrow Transplantation and Immune Deficiency, Cancer and Blood Diseases Institute, Cincinnati Children''s Hospital Medical Center, Cincinnati, Ohio;6. Institute of Cellular Medicine, Newcastle University and Children''s Bone Marrow Transplant Unit, Great North Children''s Hospital, Newcastle Upon Tyne, United Kingdom;g. Pediatrics, Boston Children''s Hospital, Boston, Mass;h. Department of Immunology, Research and Clinical Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia;i. Department of Immunology and Gene Therapy, Great Ormond Street Hospital, London, United Kingdom;j. Department of Stem Cell Transplantation, Great Ormond Street Hospital, London, United Kingdom;k. Vita-Salute San Raffaele University, Milan, Italy;l. Division of Clinical Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada;m. Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany;666. Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany;n. Department of Pediatrics, Faculdade de Medicina da Universidade de São Paulo and Hospital Albert Einstein, São Paulo, Brazil;o. Stem Cell Transplantation Unit, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo and Hospital Albert Einstein, São Paulo, Brazil;p. Pediatric Allergy and Immunology, Marmara University, Istanbul, Turkey;q. Department of Pediatrics, University Medical Center, Ulm, Germany;r. Pediatric Onco-Hematology and Bone Marrow Transplant (BMT) Unit, Children''s Hospital, Spedali Civili, Brescia, Italy;u. Department of Pediatrics, Section of Immunology Allergy Rheumatology, Baylor College of Medicine Texas Children''s Hospital, Houston, Tex;v. Department of Pediatric Hematology and Oncology, Baylor College of Medicine Texas Children''s Hospital, Houston, Tex;y. Institut national de la santé et de la recherche médicale (INSERM) UMR 1163, Laboratory of Immunogenetics of Pediatric Autoimmune Disease, Paris, France;11. Great Ormond Street Institute of Child Health, University College London, London, United Kingdom;22. Department of Pediatric Hematology-Oncology, University of Pavia, Istituto di Ricovero e Cura a Carattere Scientifico, Bambino Gesù Children''s Hospital, Rome, Italy;33. Pediatric Hematology-Oncology, Dr. von Hauner Children''s hospital, Ludwig-Maximilians Universität, Munich, Germany;44. Center for Pediatric Allergy and Rheumatology, KKR Sapporo Medical Center, Sapporo, Japan;55. Paediatric Haematology and Oncology, Hospital Universitario Vall D''Hebron, Barcelona, Spain;66. Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan;gg. St. Anna Children''s Hospital, Medical University Vienna, Vienna, Austria;hh. Pediatrics, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea;ii. Hematopoietic Stem Cell Transplantation Unit, Pediatric Department, Children''s University Hospital Niño Jesús, Madrid, Spain;jj. Division of Blood and Marrow Transplantation and Cellular Therapies, Department of Pediatrics, Children''s Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, Pa;kk. Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;ll. Pediatric Stem Cell Transplantation Unit, Medicalpark Hospital Goztepe and Antalya Hospitals, Antalya, Turkey;mm. Pediatric Allergy, Immunology and Rheumatology, Columbia Medical Center, New York, NY;nn. Pediatric Hematology, Oncology and Stem Cell Transplantation, Columbia Medical Center, New York, NY;oo. Pediatric Gastroenterology, Hepatology, and Nutrition, Columbia Medical Center, New York, NY;pp. Pediatric Endocrinology, National Children''s Hospital, San Jose, Israel;qq. Division of Immunology and Rheumatology, Department of Paediatric Infectious Diseases, University of Turin, Regina Margherita Children''s Hospital, Turin, Italy;rr. Department of Paediatric Infectious Diseases, Rheumatology and Immunodeficiency, Instituto de Biomedicina de Sevilla/CSIC/Universidad de Sevilla, Seville, Spain;ss. Department of Pediatric Hematology, Instituto de Biomedicina de Sevilla/CSIC/Universidad de Sevilla, Seville, Spain;tt. Department of Paediatirc Gastroenterology, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla/Unite Mixte de Recherche (UMR) or Mixed Unit of Research Consejo Superior de Investigaciones Científicas (CSIC)/Universidad de Sevilla, Seville, Spain;uu. Pediatric Immunology Clinic, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel;vv. Pediatric Ambulatory Care Unit, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel;ww. Department of Pediatrics, Helios Children''s Hospital, Krefeld, Germany;xx. Department of Pediatrics, Center for Primary Immunodeficiencies, Ghent University Hospital, Ghent, Belgium;yy. Division of Pediatric Allergy, Immunology and Rheumatology, University of California–Los Angeles School of Medicine, Los Angeles, Calif;zz. Pediatric Immunology, Infections and Stem Cell Transplantation (SCT), Leiden University Medical Center, Leiden, The Netherlands;111. Department of Pediatric Hematology, Oncology and Bone Marrow Transplant (BMT) Unit, Wroclaw Medical University, Wroclaw, Poland;222. Department of Pediatrics, Saint Justine Hospital, University of Montreal, Montreal, Quebec, Canada;333. Division of Pediatric Hematology-Oncology, Research Unit Pediatric Hematology and Immunology, Medical University Graz, Graz, Austria;444. Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Mass;555. Pediatric Allergy, Immunology and Bone Marrow Transplant, University of California–San Francisco Benioff Children''s Hospital, San Francisco, Calif;ggg. Pediatrics, University of Alabama, Birmingham, Ala
Abstract:
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  • Keywords:IPEX  primary immune deficiency  FOXP3  Treg cells  hematopoietic stem cell transplantation  immunosuppression  rapamycin  enteropathy  neonatal diabetes  genetic autoimmunity  DFS  Disease-free survival  FKH  Forkhead domain  GvHD  Graft-versus-host disease  HSCT  Hematopoietic stem cell transplantation  IPEX  Immunodysregulation polyendocrinopathy enteropathy x-linked  IS  Immunosuppression  OI  Organ involvement  RIT  Reduced intensity transplant  T1D  Type 1 diabetes  Treg  Regulatory T
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