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Resultados globales: 3 registros encontrados en 0.02 segundos.
Artículos, Encontrados 3 registros
Artículos Encontrados 3 registros  
1.
26 p, 2.2 MB Inherited human ezrin deficiency impairs adaptive immunity / García-Solís, Blanca (Hospital Universitario La Paz (Madrid)) ; Van Den Rym, Ana (Hospital Universitario La Paz (Madrid)) ; Martinez-Martinez, Laura (Institut d'Investigació Biomèdica Sant Pau) ; Franco-Leyva, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Pérez-Caraballo, Jareb J. (Vanderbilt University Medical Center) ; Markle, Janet (Vanderbilt University Medical Center) ; Cubillos-Zapata, Carolina (Centre for Biomedical Research Network) ; Marín, Ana V. (Centro de investigación Hospital Universitario 12 de Octubre) ; Recio, María J. (Centro de investigación Hospital Universitario 12 de Octubre) ; Regueiro, José R. (Centro de investigación Hospital Universitario 12 de Octubre) ; Navarro-Zapata, Alfonso (Hospital Universitario La Paz (Madrid)) ; Mestre-Durín, Carmen (Hospital Universitario La Paz (Madrid)) ; Ferreras, Cristina (Hospital Universitario La Paz (Madrid)) ; Cotázar, Carla Martín (Hospital Universitario La Paz (Madrid)) ; Mena, Roció (Hospital Universitario La Paz (Madrid)) ; de la Calle-Fabregat, Carlos (Institut d'Investigació contra la Leucèmia Josep Carreras) ; López-Lera, Alberto (Hospital Universitario La Paz (Madrid)) ; Arquero, Miguel Fernández (Hospital Clínico San Carlos (Madrid)) ; Pérez-Martínez, Antonio (Hospital Universitario La Paz (Madrid)) ; López-Collazo, Eduardo (Hospital Universitario La Paz (Madrid)) ; Sánchez-Ramón, Silvia (Hospital Clínico San Carlos (Madrid)) ; Casanova, Jean-Laurent (Howard Hughes Medical Institute) ; Martínez-Barricarte, Rubén (Vanderbilt University Medical Center) ; de la Calle-Martín, Oscar (Institut d'Investigació Biomèdica Sant Pau) ; de Diego, Rebeca Pérez (Hospital Universitario La Paz (Madrid)) ; Universitat Autònoma de Barcelona
Inborn errors of immunity (IEI) are a group of monogenic diseases that confer susceptibility to infection, autoimmunity, and cancer. Despite the life-threatening consequences of some IEI, their genetic cause remains unknown in many patients. [...]
2023 - 10.1016/j.jaci.2023.05.022
The Journal of Allergy and Clinical Immunology, Vol. 152 (june 2023) , p. 997-1009.e11  
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2.
0 p, 691.1 KB Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity / 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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3.
11 p, 3.7 MB Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome : Diagnostic implications / Batlle-Masó, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Garcia-Prat, Marina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Parra-Martínez, Alba (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Franco-Jarava, Clara (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Aguiló-Cucurull, Aina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Velasco, Pablo (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Antolín, María (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Rivière, Jacques G.. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martínez Gallo, Mónica (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Colobrán Oriol, Roger (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
Autoimmune lymphoproliferative syndrome (ALPS) is a rare primary immune disorder characterized by impaired apoptotic homeostasis. The clinical characteristics include lymphoproliferation, autoimmunity (mainly cytopenia), and an increased risk of lymphoma. [...]
2022 - 10.3389/fimmu.2022.1014984
Frontiers in immunology, Vol. 13 (november 2022)  
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