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Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity
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Haimel, Matthias (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ;
Pazmandi, Julia (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ;
Heredia, Raú Jiménez (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ;
Dmytrus, Jasmin (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ;
Bal, Sevgi Köstel (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ;
Zoghi, Samaneh (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ;
van Daele, Paul (Erasmus University Medical Center (Rotterdam)) ;
Briggs, Tracy A. (University of Manchester) ;
Wouters, Carine (University Hospitals Leuven (Bèlgica)) ;
Bader-Meunier, Brigitte (Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE) (Paris)) ;
Aeschlimann, Florence A. (Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE),(Paris)) ;
Caorsi, Roberta (IRCCS Istituto Giannina Gaslini, Genova) ;
Eleftheriou, Despina (Hospital for Children NHS Foundation Trust (London)) ;
Hoppenreijs, Esther (Radboud University Medical Centre (Nijmegen)) ;
Salzer, Elisabeth (Medical University of Vienna) ;
Bakhtiar, Shahrzad (Goethe University) ;
Derfalvi, Beata (Dalhousie University/IWK Health Centre Halifax) ;
Saettini, Francesco (University of Milano Bicocca) ;
Kusters, Maaike A. A. (Hospital for Children NHS Foundation Trust) ;
Elfeky, Reem (Hospital for Children NHS Foundation Trust (London)) ;
Trück, Johannes (University Children's Hospital Zurich) ;
Rivière, Jacques G.. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
van der Burg, Mirjam (Leiden University Medical Center) ;
Gattorno, Marco (IRCCS Istituto Giannina Gaslini (Genova)) ;
Seidel, Markus G. (Medical University Graz) ;
Burns, Siobhan (Royal Free Hospital NHS Foundation Trust) ;
Warnatz, Klaus (University of Freiburg) ;
Hauck, Fabian (Ludwig-Maximilians-Universität München (Munich)) ;
Brogan, Paul (Hospital for Children NHS Foundation Trust (London)) ;
Gilmour, Kimberly C. (Hospital for Children NHS Foundation Trust (London)) ;
Schuetz, Catharina (Technische Universität Dresden) ;
Simon, Anna (Radboud University Nijmegen Medical Centre) ;
Bock, Christoph (Medical University of Vienna) ;
Hambleton, Sophie (Newcastle University) ;
de Vries, Esther (Elisabeth-Tweesteden Hospital (Tilburg)) ;
Robinson, Peter N. (The Jackson Laboratory for Genomic Medicine (Farmington)) ;
van Gijn, Marielle (University Medical Center Groningen) ;
Boztug, Kaan (Medical University of Vienna) ;
Universitat Autònoma de Barcelona
Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, provides a rich collection of vocabulary with standardized phenotypic descriptions in a hierarchical structure. [...]
2021 -  10.1016/j.jaci.2021.04.033
The Journal of Allergy and Clinical Immunology, Vol. 149 (may 2021) , p. 369-378
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Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia
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Zielen, Stefan (Goethe University. Division of Allergology, Pulmonology and Cystic Fibrosis) ;
Duecker, Ruth Pia (Goethe University. Division of Allergology, Pulmonology and Cystic Fibrosis) ;
Woelke, Sandra (Goethe University. Division of Allergology, Pulmonology and Cystic Fibrosis) ;
Donath, Helena (Goethe University. Division of Allergology, Pulmonology and Cystic Fibrosis) ;
Bakhtiar, Shahrzad (Goethe University. Division for Stem Cell Transplantation, Immunology and Intensive Care Unit) ;
Buecker, Aileen (Goethe University. Division of Allergology, Pulmonology and Cystic Fibrosis) ;
Kreyenberg, Hermann (Goethe University. Division for Stem Cell Transplantation, Immunology and Intensive Care Unit) ;
Huenecke, Sabine (Goethe University. Division for Stem Cell Transplantation, Immunology and Intensive Care Unit) ;
Bader, Peter (Goethe University. Division for Stem Cell Transplantation, Immunology and Intensive Care Unit) ;
Mahlaoui, Nizar (Necker Children's University Hospital. Pediatric Immunology-Hematology and Rheumatology Unit) ;
Ehl, Stephan (University of Freiburg. Institute for Immunodeficiency) ;
El-Helou, Sabine M. (Hannover Medical School. Department of Rheumatology and Immunology) ;
Pietrucha, Barbara (The Children's Memorial Health Institute. Department of Immunology) ;
Plebani, Alessandro (University of Brescia. Department of Clinical and Experimental Sciences) ;
van der Flier, Michiel (Radboud University Medical Center. Section Pediatric Infectious Diseases) ;
van Aerde, Koen (Radboud University Medical Center. Department of Pediatrics) ;
Kilic, Sara S. (Uludag University. Department of Pediatric Immunology and Rheumatology) ;
Reda, Shereen M. (Ain Shams University. Department of Pediatrics) ;
Kostyuchenko, Larysa (Western Ukrainian Specialized Children's Medical Centre) ;
McDermott, Elizabeth (Nottingham University Hospitals NHS Trust (Regne Unit)) ;
Galal, Nermeen (Cairo University Specialized Pediatric Hospital. Department of Pediatrics) ;
Pignata, Claudio (Federico II University. Department of Translational Medical Sciences) ;
Santos-Pérez, Juan Luis (Hospital Universitario Virgen de las Nieves (Granada)) ;
Laws, Hans-Juergen (Heinrich-Heine University. Department of Pediatric Oncology, Hematology and Clinical Immunology) ;
Niehues, Tim (Centre for Child and Adolescent Health (Krefeld, Germany)) ;
Kutukculer, Necil (Ege University. Department of Pediatric Immunology) ;
Seidel, Markus G. (Medical University Graz. Department of Pediatrics and Adolescent Medicine) ;
Marques, Laura (Porto Hospital Center. Pediatric Department) ;
Ciznar, Peter (Comenius University in Bratislava. Pediatric Department) ;
Edgar, John David M. (The Royal Hospitals & Queen's University) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
von Bernuth, Horst (Charité - Universitätsmedizin Berlin) ;
Krueger, Renate (Charité - Universitätsmedizin Berlin) ;
Meyts, Isabelle (University Hospitals Leuven (Bèlgica)) ;
Baumann, Ulrich (Hannover Medical School. Department of Paediatric Pulmonology, Allergy and Neonatology) ;
Kanariou, Maria ("Aghia Sophia" Children's Hospital. Department of Immunology and Histocompatibility) ;
Grimbacher, Bodo (Albert-Ludwigs University) ;
Hauck, Fabian (Ludwig-Maximilians-University Munich. Department of Pediatrics) ;
Graf, Dagmar (MVZ Dr. Reising-Ackermann Und Kollegen (Leipzig, Germany)) ;
Granado, Luis Ignacio Gonzalez (Universidad Complutense de Madrid) ;
Prader, Seraina (University Children's Hospital Zurich. Division of Immunology and Children's Research Center) ;
Reisli, Ismail (Necmettin Erbakan University. Department of Pediatrics) ;
Slatter, Mary (Newcastle University. Primary Immunodeficiency Group, Paediatric Immunology and Haematopoietic Stem Cell Transplantation) ;
Rodríguez-Gallego, Carlos (University Fernando Pessoa Canarias. Department of Immunology) ;
Arkwright, Peter D. (University of Manchester. Lydia Becker Institute of Immunology and Inflammation) ;
Bethune, Claire (University Hospitals Plymouth NHS Trust (Regne Unit)) ;
Deripapa, Elena (National Medical Research Center of Pediatric Hematology, Oncology and Immunology (Moscow, Russia)) ;
Sharapova, Svetlana O. (Belarusian Research Center for Pediatric Oncology, Hematology and Immunology. Research Department) ;
Lehmberg, Kai (University Medical Center Hamburg-Eppendorf. Division for Pediatric Stem Cell Transplantation and Immunology) ;
Davies, E. Graham (Great Ormond Street Hospital for Children (Londres)) ;
Schuetz, Catharina (Technische Universität Dresden. Department of Pediatrics) ;
Kindle, Gerhard (University of Freiburg. FREEZE Biobank) ;
Schubert, Ralf (Goethe University. Division of Allergology, Pulmonology and Cystic Fibrosis) ;
Universitat Autònoma de Barcelona
Patients with ataxia-telangiectasia (A-T) sufer from progressive cerebellar ataxia, immunodefciency, respiratory failure, and cancer susceptibility. From a clinical point of view, A-T patients with IgA defciency show more symptoms and may have a poorer prognosis. [...]
2021 - 10.1007/s10875-021-01090-8
Journal of Clinical Immunology, Vol. 41 (september 2021) , p. 1878-1892
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