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Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
Haimel, Matthias; Pazmandi, Julia; Heredia, Raúl Jiménez; Dmytrus, Jasmin; Bal, Sevgi Köstel; Zoghi, Samaneh; van Daele, Paul; Briggs, Tracy A; Wouters, Carine; Bader-Meunier, Brigitte; Aeschlimann, Florence A; Caorsi, Roberta; Eleftheriou, Despina; Hoppenreijs, Esther; Salzer, Elisabeth; Bakhtiar, Shahrzad; Derfalvi, Beata; Saettini, Francesco; Kusters, Maaike A A; Elfeky, Reem; Trück, Johannes; Rivière, Jacques G; van der Burg, Mirjam; Gattorno, Marco; Seidel, Markus G; Burns, Siobhan; Warnatz, Klaus; Hauck, Fabian; Brogan, Paul; Gilmour, Kimberly C; Schuetz, Catharina; Simon, Anna; Bock, Christoph; Hambleton, Sophie; de Vries, Esther; Robinson, Peter N; van Gijn, Marielle; Boztug, Kaan.
Afiliação
  • Haimel M; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; St Anna Children's Cancer Research Institute (CCRI), Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Pazmandi J; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; St Anna Children's Cancer Research Institute (CCRI), Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Heredia RJ; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; St Anna Children's Cancer Research Institute (CCRI), Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Dmytrus J; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; St Anna Children's Cancer Research Institute (CCRI), Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Bal SK; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; St Anna Children's Cancer Research Institute (CCRI), Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Zoghi S; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; St Anna Children's Cancer Research Institute (CCRI), Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • van Daele P; Department of Clinical Immunology, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • Briggs TA; NW Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, United Kingdom.
  • Wouters C; Department of Microbiology and Immunology, Immunobiology, KU Leuven, Leuven, Belgium; Department of Pediatrics, Division of Pediatric Rheumatology, University Hospitals Leuven, Leuven, Belgium.
  • Bader-Meunier B; Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children - AP-HP, Paris, France; Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE), Paris, France.
  • Aeschlimann FA; Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children - AP-HP, Paris, France; Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE), Paris, France.
  • Caorsi R; Center for Autoinflammatory Diseases and Immunodeficiency, IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Eleftheriou D; University College London Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Immunology, Great Ormond Street (GOS) Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Hoppenreijs E; Department of Paediatric Rheumatology, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Salzer E; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; St Anna Children's Cancer Research Institute (CCRI), Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; St Anna Children's Hospital, Department of Pediatrics
  • Bakhtiar S; Department for Children and Adolescents, Division for Stem Cell Transplantation, Immunology and Intensive Care Unit, Goethe University, Frankfurt, Germany.
  • Derfalvi B; Department of Pediatrics, Division of Immunology, Dalhousie University/IWK Health Centre Halifax, Halifax, Nova Scotia, Canada.
  • Saettini F; Pediatric Hematology Department, Fondazione MBBM, University of Milano Bicocca, via Pergolesi 33, Monza, Italy.
  • Kusters MAA; University College London Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Immunology, Great Ormond Street (GOS) Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Elfeky R; University College London Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Immunology, Great Ormond Street (GOS) Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Trück J; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
  • Rivière JG; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Research Institute, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain; Jeffrey Model Foundation Excellence Center, Barcelona, Spain.
  • van der Burg M; Department of Immunology, University Medical Center Rotterdam, Rotterdam, The Netherlands; Laboratory for Pediatric Immunology, Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
  • Gattorno M; Center for Autoinflammatory Diseases and Immunodeficiency, IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Seidel MG; Research Unit for Pediatric Hematology and Immunology, Division of Pediatric Hemato-Oncology, Department of Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria.
  • Burns S; Department of Immunology, UCL Institute of Immunity & Transplantation, Department of Immunology, Royal Free Hospital NHS Foundation Trust, London, United Kingdom.
  • Warnatz K; Division of Immunodeficiency, Department of Rheumatology and Clinical Immunology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of
  • Hauck F; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany; Munich Centre for Rare Diseases (M-ZSE(LMU)), University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Brogan P; University College London Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Immunology, Great Ormond Street (GOS) Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Gilmour KC; Department of Immunology, Great Ormond Street (GOS) Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Schuetz C; Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Simon A; Radboudumc Expertise Centre for Immunodeficiency and Autoinflammation (REIA), Department of Internal Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
  • Bock C; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; Institute of Artificial Intelligence and Decision Support, Center for Medical Statistics, Informatics, and Intelligent Syst
  • Hambleton S; Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • de Vries E; Tranzo, Tilburg University, Tilburg, The Netherlands; Laboratory for Medical Microbiology and Immunology, Elisabeth-Tweesteden Hospital, Tilburg, The Netherlands.
  • Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, Conn.
  • van Gijn M; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands. Electronic address: m.e.van.gijn@umcg.nl.
  • Boztug K; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; St Anna Children's Cancer Research Institute (CCRI), Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; Department of Pediatrics and Adolescent Medicine, Med
J Allergy Clin Immunol ; 149(1): 369-378, 2022 01.
Article em En | MEDLINE | ID: mdl-33991581
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Raras / Doenças Genéticas Inatas / Doenças do Sistema Imunitário Tipo de estudo: Systematic_reviews Limite: Humans Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Áustria
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Raras / Doenças Genéticas Inatas / Doenças do Sistema Imunitário Tipo de estudo: Systematic_reviews Limite: Humans Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Áustria