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Inherited human ezrin deficiency impairs adaptive immunity
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García-Solís, Blanca (Hospital Universitario La Paz (Madrid)) ;
Van Den Rym, Ana (Hospital Universitario La Paz (Madrid)) ;
Martinez-Martínez, 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) ;
Pérez-Martínez, Antonio (Hospital Universitario La Paz (Madrid)) ;
López-Collazo, Eduardo (Hospital Universitario La Paz (Madrid)) ;
Sánchez-Ramón, Silvia (Hospital Clínico San Carlos) ;
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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6 p, 377.9 KB |
Clinical and genetic differences between pustular psoriasis subtypes
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Twelves, Sophie (King's College London) ;
Mostafa, Alshimaa (Beni Suef University) ;
Dand, Nick (King's College London) ;
Burri, Elias (University Hospital Zurich (Suïssa)) ;
Farkas, K. (University of Szeged) ;
Wilson, Rosemary (King's College London) ;
Cooper, Hywel L. (Portsmouth Hospitals Trust) ;
Irvine, Alan D. (Trinity College Dublin) ;
Oon, Hazel H. (National Skin Centre) ;
Kingo, Külli (Tartu University Hospital (Tartu, Estònia)) ;
Köks, Sulev (University of Tartu) ;
Mrowietz, Ulrich (University Medical Center Schleswig-Holstein) ;
Puig Sanz, Lluís (Institut d'Investigació Biomèdica Sant Pau) ;
Reynolds, Nick (Newcastle Hospitals NHS Foundation Trust) ;
Tan, Euegene Sern-Ting (National Skin Centre) ;
Tanew, Adrian (Medical University of Vienna) ;
Torz, Kaspar (Campus Kiel) ;
Trattner, Hannes (Medical University of Vienna) ;
Valentine, Mark (University of Washington School of Medicine) ;
Wahie, Shyamal (University Hospital of North Durham and Darlington Memorial Hospital) ;
Warren, Richard B. (University of Manchester and the Academic Health Science Centre) ;
Wright, Andrew (St University of Bradford) ;
Bata-Csörgő, Zsuzsa (University of Szeged) ;
Szell, Marta (University of Szeged) ;
Griffiths, Christopher E.M. (University of Manchester and the Academic Health Science Centre) ;
Burden, A.David (University of Glasgow) ;
Choon, Siew-Eng (Monash University Malaysia) ;
Smith, Catherine H. (King's College London) ;
Barker, Jonathan N. (King's College London) ;
Navarini, Alexander A. (University Hospital Zurich (Suïssa)) ;
Capon, Francesca (King's College London) ;
Universitat Autònoma de Barcelona
The term pustular psoriasis indicates a group of severe skin disorders characterized by eruptions of neutrophil-filled pustules. The disease, which often manifests with concurrent psoriasis vulgaris, can have an acute systemic (generalized pustular psoriasis [GPP]) or chronic localized (palmoplantar pustulosis [PPP] and acrodermatitis continua of Hallopeau [ACH]) presentation. [...]
2019 - 10.1016/j.jaci.2018.06.038
The Journal of Allergy and Clinical Immunology, Vol. 143 Núm. 3 (march 2019) , p. 1021-1026
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23 p, 3.1 MB |
Short-Acting Beta-2-Agonist Exposure and Severe Asthma Exacerbations : SABINA Findings From Europe and North America
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Quint, Jennifer K. (Imperial College London) ;
Arnetorp, Sofie (Payer Analytics. AstraZeneca) ;
Kocks, Janwillem W.H. (University Medical Center Groningen) ;
Kupczyk, Maciej (Karolinska Institutet (Estocolm, Suècia)) ;
Nuevo, Javier (Evidence Generation. AstraZeneca) ;
Plaza, Vicente (Institut d'Investigació Biomèdica Sant Pau) ;
Cabrera, Claudia (BioPharmaceuticals Medical (Evidence). AstraZeneca) ;
Raherison-Semjen, Chantal (Bordeaux University) ;
Walker, Brandie (University of Calgary) ;
Penz, Erika (University of Saskatchewan) ;
Gilbert, Ileen (Medical Affairs. AstraZeneca) ;
Lugogo, Njira Lucia (University of Michigan) ;
van der Valk, Ralf J.P. (Medical Affairs. AstraZeneca) ;
Fong, Andrew ;
Qian, Christina ;
Fabry-Vendrand, Caroline ;
Touboul, Chantal ;
Brzostek, Dorota ;
Maslova, Ekaterina ;
Surmont, Filip ;
Goike, Helena ;
Gandhi, Hitesh ;
Korevaar, J.C. ;
Tkacz, Joseph ;
Johnston, Karissa ;
Peres da Costa, Keith ;
van Dijk, L. ;
Vervloet, M. ;
Pollack, Michael ;
Hernandez, Paul ;
Boarino, S. ;
Noorduyn, Stephen G. ;
Beekman-Hendricks, Wendy ;
Weesie, Y.M. ;
Universitat Autònoma de Barcelona
Expert national/global asthma management recommendations raise the issue whether a safe threshold of short-acting beta-2 agonist (SABA) use without concomitant inhaled corticosteroids (ICS) exists. To examine SABA and maintenance therapy associations with severe asthma exacerbations across North America and Europe. [...]
2022 - 10.1016/j.jaip.2022.02.047
Journal of Allergy and Clinical Immunology: In Practice, Vol. 10 Núm. 9 (september 2022) , p. 2297-2309.e10
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9 p, 397.0 KB |
Determinants and Differences in Satisfaction with the Inhaler Among Patients with Asthma or COPD
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Plaza, Vicente (Institut d'Investigació Biomèdica Sant Pau) ;
Giner, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Curto Sánchez, Elena (Institut d'Investigació Biomèdica Sant Pau) ;
Alonso-Ortiz, M. Belén (Hospital Universitario de Gran Canaria Doctor Negrín Las Palmas de Gran Canaria) ;
Orue, Miren Itxaso (Centro de Salud Javier Sáenz de Buruaga (Bilbao, País Basc)) ;
Vega, José María (Hospital Regional Universitario de Málaga (Màlaga, Andalusia)) ;
Cosio, Borja G. (Institut d'Investigació Sanitària Illes Balears (Mallorca, Balears)) ;
Bellido Linares, Virginia (Hospital Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
Mora, Roberto Bernabeu (Hospital General Universitario Morales Meseguer (Múrcia)) ;
Cabrera César, Eva (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Callero Viera, Ariel (Hospital Universitario Ntra. Sra.de Candelaria (Santa Cruz de Tenerife)) ;
Castillo, Rafael (Hospital de Llíria) ;
Delgado Romero, Julio (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
de los Monteros-Garde, Mª José Espinosa (Hospital Virgen de la Salud) ;
Fernández Rodríguez-Lacín, José María (Centro de Salud Nata-hoyo) ;
García Robaina, José Carlos (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ;
Hernández Gil, Aníbal Manuel (Hospital Comarcal de Laredo) ;
Hernández Rey, José Miguel (Hospital Punta de Europa) ;
Santana, Guacimara Hernández (Hospital Punta de Europa) ;
López Ruiz, Cristina (Hospital Universitari Vall d'Hebron) ;
Balaguer, Enrique Mascaros (Centro de Salud Fuente San Luis) ;
Mazo Echaniz, Francisco Javier (Hospital de Basurto (Bilbao, Biscaia)) ;
Moreno Pérez, Núria (Hospital Universitari Vall d'Hebron) ;
Arrondo, Antoni Parra (Hospital Abente y Lago) ;
Sánchez, José Portillo (Hospital General Universitario de Ciudad Real) ;
Rodríguez Encinar, José Ramón (Centro de Salud Arroyo de la Media Legua) ;
Rodríguez Plata, Elena (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ;
Román Bernal, Berta (Hospital Dr. José Molina Osora) ;
Cunill Sala, Anna (Hospital Universitari Vall d'Hebron) ;
Sánchez Lora, Fernando J. (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Sánchez Nieto, Juan Miguel (Hospital General Universitario Morales Meseguer (Múrcia)) ;
Serra Batlles, Joan (Hospital Universitari de Vic) ;
Torres Relucio, José Joaquín (Hospital General Universitari de Castelló (País Valencià)) ;
Valido Morales, Agustín S. (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
Vázquez Alarcón, Rubén Luciano (Centro de Salud VERA) ;
Velasco Garrido, José Luis (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Universitat Autònoma de Barcelona
Satisfaction with the inhaler is an important determinant of treatment adherence in patients with asthma and chronic obstructive pulmonary disease (COPD). However, few studies have compared these 2 groups to identify the factors associated with satisfaction with the inhaler. [...]
2020 - 10.1016/j.jaip.2019.09.020
Journal of Allergy and Clinical Immunology: In Practice, Vol. 8 Núm. 2 (february 2020) , p. 645-653
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19 p, 3.2 MB |
Hematopoietic cell transplantation in severe combined immunodeficiency : The SCETIDE 2006-2014 European cohort
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Lankester, Arjan C. (Pediatric Stem Cell Transplantation Program and Laboratory for Pediatric Immunology. Willem-Alexander Children's Hospital. Leiden University Medical Center) ;
Neven, Benedicte (Institut Imagine. INSERM UMR1163. Laboratory of Immunogenetics of Pediatric Autoimmune Diseases) ;
Mahlaoui, Nizar (French National Reference Center for Primary Immunodeficiencies (CEREDIH) and European Registry for Stem Cell Transplantation for Primary Immunodeficiencies (SCETIDE). Hôpital Universitaire Necker-Enfants malades. Assistance Publique-Hôpitaux de Paris (AP-HP)) ;
von Asmuth, Erik G.J. (Pediatric Stem Cell Transplantation Program and Laboratory for Pediatric Immunology. Willem-Alexander Children's Hospital. Leiden University Medical Center) ;
Courteille, Virginie (French National Reference Center for Primary Immunodeficiencies (CEREDIH) and European Registry for Stem Cell Transplantation for Primary Immunodeficiencies (SCETIDE). Hôpital Universitaire Necker-Enfants malades. Assistance Publique-Hôpitaux de Paris (AP-HP)) ;
Alligon, Mikael (French National Reference Center for Primary Immunodeficiencies (CEREDIH) and European Registry for Stem Cell Transplantation for Primary Immunodeficiencies (SCETIDE). Hôpital Universitaire Necker-Enfants malades. Assistance Publique-Hôpitaux de Paris (AP-HP)) ;
Albert, Michael H. (Dr von Haunersches University Children's Hospital) ;
Badell Serra, Isabel (Institut d'Investigació Biomèdica Sant Pau) ;
Bader, Peter (Department for Children and Adolescents Medicine. Division for Stem Cell Transplantation and Immunology. University Hospital Frankfurt) ;
Balashov, Dmitry (Department for Hematopoietic Stem Cell Transplantation. Dmitriy Rogachev National Center for Pediatric Hematology. Oncology and Immunology) ;
Beier, Rita (Klinik für Pädiatrische Hämatologie und Onkologie. Hannover Medical School) ;
Bertrand, Yves (Institut d'Hématologie et d'Oncologie Pédiatrique. Hospices Civils de Lyon and Université Claude Bernard Lyon 1) ;
Blanche, Stephane (Unité d'Immuno-hematologie et Rhumatologie Pédiatrique. Hôpital Universitaire Necker-Enfants Malades. Assistance Publique-Hôpitaux de Paris (AP-HP)) ;
Bordon, Victoria (Department of Pediatric Hemato-oncology and Stem Cell Transplant. Ghent University Hospital) ;
Bredius, Robert G. (Pediatric Stem Cell Transplantation Program and Laboratory for Pediatric Immunology. Willem-Alexander Children's Hospital. Leiden University Medical Center) ;
Cant, Andrew (Translational and Clinical Research Institute. Newcastle University. and the Paediatric Haematopoietic Stem Cell Transplant Unit. Great North Children's Hospital) ;
Cavazzana, Marina (Laboratory of Genomic Dynamics in the Immune System. Institut Imagine. INSERM UMR1163) ;
Díaz de Heredia, Cristina (Vall d'Hebron Institut d'Oncologia) ;
Dogu, Figen (Department of PIA and the BMT Unit. Ankara University) ;
Ehlert, Karoline (Department of Pediatric Hematology and Oncology. University of Greifswald) ;
Entz-Werle, Natacha (Pediatric Onco-hematology Department-Pediatrics III. University Hospital of Strasbourg) ;
Fasth, Anders (Department of Pediatrics. Institute of Clinical Sciences. University of Gothenburg) ;
Ferrua, Francesca (Pediatric Immunohematology and Bone Marrow Transplantation Unit and the San Raffaele Telethon Institute for Gene Therapy (SR-Tiget). IRCCS San Raffaele Scientific Institute) ;
Ferster, Alina (Department of Hemato-oncology. Hôpital Universitaire des Enfants Reine Fabiola) ;
Formankova, Renata (Department of Pediatric Hematology and Oncology. Teaching Hospital Motol. 2nd Medical School. Charles University Motol) ;
Friedrich, Wilhelm (Department of Pediatrics. University Medical Center Ulm) ;
Gonzalez-Vicent, Marta (Hospital del Niño Jesús. Hematopoietic Stem Cell Transplantation and Cellular Therapy Unit) ;
Gozdzik, Jolanta (Department of Clinical Immunology and Transplantation. Jagiellonian University Medical College) ;
Güngör, Tayfun (Department of Hematology. Oncology. Immunology. Gene Therapy and Stem Cell Transplantation. and Children's Research Center (CRC). University Children's Hospital) ;
Hoenig, Manfred (Department of Pediatrics. University Medical Center Ulm) ;
Ikinciogullari, Aydan (Department of PIA and the BMT Unit. Ankara University) ;
Kalwak, Krzysztof (Department of Pediatric Hematology. Oncology. and BMT. Wroclaw Medical University) ;
Kansoy, Savas (Department of Pediatric Hematology and Oncology. Ege University Hospital) ;
Kupesiz, Alphan (Department of Pediatrics. Hematology. and Oncology. Akdeniz University School of Medicine) ;
Lanfranchi, Arnalda (Diagnostic Department. Stem Cell Laboratory. Section of Hematology and Blood Coagulation. Clinical Chemistry Laboratory. ASST Spedali Civili) ;
Lindemans, Caroline A. (Department of Pediatrics. University Medical Center Utrecht. University of Utrecht) ;
Meisel, Roland (Department of Pediatric Oncology. Hematology. and Clinical Immunology. Medical Faculty. Division of Pediatric Stem Cell Therapy. Heinrich-Heine-University) ;
Michel, Gerard (Service d'Hématologie Immunologie Oncologie Pédiatrique. CHU La Timone) ;
Miranda, Nuno A. A. (BMT Unit. Instituto Português de Oncologia de Lisboa) ;
Moraleda, Jose (Hospital Virgen de la Arrixaca. Instituto Murciano de Investigación Biosanitaria) ;
Moshous, Despina (Laboratory of Genomic Dynamics in the Immune System. Institut Imagine. INSERM UMR1163) ;
Pichler, Herbert (Department of Stem Cell Transplantation. Children's Cancer Institute. St Anna Hospital) ;
Rao, Kanchan (Great Ormond Street (GOS) Hospital for Children NHS Foundation Trust and University College London GOS Institute of Child Health) ;
Sedlacek, Petr (Department of Pediatric Hematology and Oncology. Teaching Hospital Motol. 2nd Medical School. Charles University Motol) ;
Slatter, Mary (Translational and Clinical Research Institute. Newcastle University. and the Paediatric Haematopoietic Stem Cell Transplant Unit. Great North Children's Hospital) ;
Soncini, Elena (Pediatric Oncohaematology and BMT Unit. Children's Hospital Brescia) ;
Speckmann, Carsten (Department of Pediatric Hematology and Oncology. Center for Pediatrics and Adolescent Medicine. Institute for Immunodeficiency. Center for Chronic Immunodeficiency (CCI). Faculty of Medicine. Medical Center. University of Freiburg) ;
Sundin, Mikael (Section of Pediatric Hematology. Immunology. and HCT. Astrid Lindgren Children's Hospital. Karolinska University Hospital. and Division of Pediatrics. CLINTEC. Karolinska Institutet) ;
Toren, Amos (Paediatric Hemato-oncology and BMT. Sheba Medical Center) ;
Vettenranta, Kim (University of Helsinki and Children's Hospital. University of Helsinki) ;
Worth, Austen (Great Ormond Street (GOS) Hospital for Children NHS Foundation Trust and University College London GOS Institute of Child Health) ;
Yeşilipek, Mehmet A. (Pediatric Hematology. Oncology. and Pediatric Stem Cell Transplantation Unit. Medicalpark Antalya & Göztepe Hospitals) ;
Zecca, Marco (Pediatric Hematology/Oncology. Fondazione IRCCS Policlinico San Matteo) ;
Porta, Fulvio (Pediatric Oncohaematology and BMT Unit. Children's Hospital Brescia) ;
Schulz, Ansgar (Department of Pediatrics. University Medical Center Ulm) ;
Veys, Paul (Great Ormond Street (GOS) Hospital for Children NHS Foundation Trust and University College London GOS Institute of Child Health) ;
Fischer, Alain (Université de Paris) ;
Gennery, Andrew R. (Translational and Clinical Research Institute. Newcastle University. and the Paediatric Haematopoietic Stem Cell Transplant Unit. Great North Children's Hospital)
Background: Hematopoietic stem cell transplantation (HSCT) represents a curative treatment for patients with severe combined immunodeficiency (SCID), a group of monogenic immune disorders with an otherwise fatal outcome. [...]
2022 - 10.1016/j.jaci.2021.10.017
The Journal of Allergy and Clinical Immunology, Vol. 149 Núm. 5 (may 2022) , p. 1744-1754.e8
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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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9 p, 430.4 KB |
Dupilumab Efficacy in Steroid-Dependent Severe Asthma by Baseline Oral Corticosteroid Dose
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Domingo, Christian (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Maspero, Jorge F (Fundación CIDEA) ;
Castro, Mario (University of Kansas School of Medicine) ;
Hanania, Nicola A. (Baylor College of Medicine) ;
Ford, Linda B (Asthma & Allergy Center) ;
Halpin, David M G (College of Medicine and Health) ;
Jackson, David J (King's College London) ;
Daizadeh, Nadia (Sanofi-Syntelabo) ;
Djandji, Michel (Sanofi-Syntelabo) ;
Mitchell, Colin P (Sanofi-Syntelabo) ;
Crikelair, Nora (Regeneron Pharmaceuticals. Inc) ;
Jacob-Nara, Juby A (Sanofi-Syntelabo) ;
Deniz, Yamo (Regeneron Pharmaceuticals. Inc) ;
Rowe, Paul J (Sanofi-Syntelabo) ;
Ortiz, Benjamin (Regeneron Pharmaceuticals. Inc) ;
Universitat Autònoma de Barcelona.
Departament de Medicina
Background: Dupilumab, a fully human monoclonal antibody, blocks the shared receptor component for interleukin-4/-13, key and central drivers of type 2 inflammation in multiple diseases. In the phase 3 LIBERTY ASTHMA VENTURE (VENTURE) study (NCT02528214), dupilumab versus placebo reduced oral corticosteroid (OCS) dose and improved clinical outcomes in patients with OCS-dependent severe asthma. [...]
2022 - 10.1016/j.jaip.2022.03.020
The Journal of allergy and clinical immunology. In practice, Vol. 10 Núm. 7 (July 2022) , p. 1835-1843
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11 p, 665.2 KB |
Current Transition Practice for Primary Immunodeficiencies and Autoinflammatory Diseases in Europe : a RITA-ERN Survey
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Israni, Muskan (Royal Free London NHS Foundation Trust) ;
Nicholson, Bethany (Royal Free London NHS Foundation Trust) ;
Mahlaoui, Nizar (Necker Enfants Malades University Hospital) ;
Obici, Laura (Fondazione IRCCS Policlinico San Matteo) ;
Rossi-Semerano, Linda (Assistance Publique-Hôpitaux de Paris (AP-HP)) ;
Lachmann, Helen (University College London) ;
Hayward, Georgia (Chapel Allerton Hospital) ;
Avramovič, Mojca Zajc (University Children's Hospital Ljubljana) ;
Guffroy, Aurelien (Université de Strasbourg) ;
Dalm, Virgil (Erasmus University Medical Center) ;
Rimmer, Rachel (Rare Autoinflammatory Conditions Community - UK) ;
Solis, Leire (International Patient Organisation for Primary Immunodeficiencies (IPOPI)) ;
Villar, Carlotta (Barcelona PID Foundation) ;
Gennery, Andrew R. (Newcastle University) ;
Skeffington, Stephanie (Irish Vasculitis Organisation) ;
Nordin, Julia (International Patient Organisation for Primary Immunodeficiencies (IPOPI)) ;
Warnatz, Klaus (University of Freiburg) ;
Korganow, Anne-Sophie (Université de Strasbourg) ;
Antón, Jordi (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Cattalini, Marco (University of Brescia) ;
Amin, Tania (Leeds Children's Hospital) ;
Berg, Stephan (Queen Silvia Children's Hospital) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ;
Burns, Siobhan (University College London Institute of Immunity and Transplantation) ;
Campbell, Mari (University College London Institute of Immunity and Transplantation) ;
Universitat Autònoma de Barcelona
Due to the absence of curative treatments for inborn errors of immunity (IEI), children born with IEI require long-term follow-up for disease manifestations and related complications that occur over the lifespan. [...]
2022 - 10.1007/s10875-022-01345-y
Journal of Clinical Immunology, Vol. 43 (october 2022) , p. 206-216
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15 p, 3.0 MB |
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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Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations
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Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Fortuny Guasch, Claudia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Rey, Lourdes (Hospital Álvaro Cunqueiro (Vigo)) ;
Bunney, Tom D. (University College London. Institute of Structural and Molecular Biology) ;
Alsina Manrique, Laia (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Esteve-Solé, Ana (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Bull, Daniel (University College London. ARUK Drug Discovery Institute) ;
Anton, Maria Carmen (Hospital Clínic i Provincial de Barcelona) ;
Basagaña, Maria (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Casals, Ferran (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Deyà-Martínez, Ángela (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Garcia-Prat, Marina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Gimeno, Ramon (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Juan, Manel (Universitat de Barcelona. Facultat de Medicina i Ciències de la Salut) ;
Martinez-Banaclocha, Helios (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ;
Martinez-Garcia, Juan J. (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ;
Mensa-Vilaró, Anna (Hospital Clínic i Provincial de Barcelona) ;
Rabionet, Raquel (Universitat de Barcelona. Institut de Biomedicina) ;
Martin-Begue, Nieves (Hospital Universitari Vall d'Hebron) ;
Rudilla, Francesc (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Estivill, Xavier (Quantitative Genomic Medicine Laboratories (qGenomics), Esplugues del Llobregat) ;
García-Patos Briones, Vicente (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Pujol Vallverdú, Ramón M (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Katan, Matilda (University College London. Institute of Structural and Molecular Biology) ;
Pelegrín, Pablo (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ;
Colobrán Oriol, Roger (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ;
Vicente, Asun (Hospital Sant Joan de Déu (Manresa)) ;
Aróstegui, Juan Ignacio (Universitat de Barcelona. Facultat de Medicina i Ciències de la Salut)
The online version of this article (10. 1007/s10875-020-00794-7) contains supplementary material, which is available to authorized users.
2020 - 10.1007/s10875-020-00794-7
Journal of Clinical Immunology, Vol. 40 (july 2020) , p. 987-1000
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