Results overview: Found 8 records in 0.02 seconds.
Articles, 8 records found
Articles 8 records found  
1.
1 p, 456.8 KB Correction : The 2019 and 2021 International workshops on Alport syndrome / Daga, Sergio (University of Siena) ; Ding, Jie (Peking University First Hospital) ; Deltas, Constantinos (University of Cyprus Medical School) ; Savige, Judy (The University of Melbourne) ; Lipska-Ziętkiewicz, Beata S. (Medical University of Gdańsk) ; Hoefele, Julia (Technical University of Munich) ; Flinter, Frances (Guys' and St Thomas' NHS Foundation Trust) ; Gale, Daniel P. (UK Renal Registry) ; Aksenova, Marina (Y. Veltischev Research and Clinical Institute for Pediatrics at the Pirogov Russian National Research Medical University) ; Kai, Hirofumi (Kumamoto University) ; Perin, Laura (University of Southern California) ; Barua, Moumita (University of Toronto) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Miner, Jeff H. (Washington University School of Medicine) ; Massella, Laura (Bambino Gesù Children's Hospital) ; Ljubanović, Danica Galešić (University of Zagreb School of Medicine) ; Lennon, Rachel (The University of Manchester) ; Weinstock, Andrè B. (Alport Syndrome Foundation) ; Knebelmann, Bertrand (Paris University) ; Cerkauskaite, Agne (Vilnius University Hospital Santariskiu Clinics) ; Gear, Susie (Alport UK, Tetbury, UK) ; Gross, Oliver (University Medicine Goettingen) ; Turner, A. Neil (University of Edinburgh) ; Baldassarri, Margherita (Azienda Ospedaliero-Universitaria Senese) ; Pinto, Anna Maria (Azienda Ospedaliero-Universitaria Senese) ; Renieri, Alessandra (Azienda Ospedaliero-Universitaria Senese) ; Universitat Autònoma de Barcelona
2023 - 10.1038/s41431-023-01286-z
European Journal of Human Genetics, Vol. 32 (january 2023) , p. 130  
2.
18 p, 1.5 MB Novel genes and sex differences in COVID-19 severity / Cruz, Raquel ; Diz-de Almeida, Silvia ; López de Heredia, Miguel (Institut d'Investigació Biomèdica Sant Pau) ; Quintela, Inés ; Ceballos, Francisco C ; Pita, Guillermo ; Lorenzo-Salazar, José M ; González-Montelongo, Rafaela ; Gago-Dominguez, Manuela ; Sevilla Porras, Marta ; Tenorio Castaño, Jair Antonio ; Nevado, Julian ; Aguado, José María ; Aguilar Franco, Carlos (Hospital Santa Bárbara (Soria)) ; Aguilera-Albesa, Sergio ; Almadana, Virginia ; Almoguera, Berta ; Alvarez, Nuria ; Andreu-Bernabeu, Álvaro ; Arana-Arri, Eunate ; Arango, Celso ; Arranz, María Jesús (Fundació Docència i Investigació Mútua Terrassa) ; Artiga, Maria-Jesus ; Baptista-Rosas, Raúl C ; Barreda-Sánchez, María ; Belhassen-Garcia, Moncef ; Bezerra, Joao F ; Bezerra, Marcos A C ; Boix-Palop, Lucía ; Brion, María ; Brugada, Ramon ; Bustos, Matilde ; Calderón, Enrique J ; Carbonell, Cristina ; Castaño, Luis ; Castelao, Jose E ; Conde-Vicente, Rosa ; Cordero-Lorenzana, M Lourdes ; Cortes-Sanchez, Jose L ; Corton, Marta ; Darnaude, M Teresa ; De Martino-Rodríguez, Alba ; del Campo-Pérez, Victor ; Diaz de Bustamante, Aranzazu ; Domínguez-Garrido, Elena ; Luchessi, Andre D ; Eiros, Rocío ; Estigarribia Sanabria, Gladys Mercedes ; Carmen Fariñas, María ; Fernández-Robelo, Uxía ; Fernández-Rodríguez, Amanda ; Fernández-Villa, Tania ; Gil-Fournier, Belén ; Gómez-Arrue, Javier ; González Álvarez, Beatriz ; Gonzalez Bernaldo de Quirós, Fernan ; González-Peñas, Javier ; Gutiérrez-Bautista, Juan F ; Herrero, María José ; Herrero-Gonzalez, Antonio ; Jimenez-Sousa, María A ; Lattig, María Claudia ; Liger Borja, Anabel ; Lopez-Rodriguez, Rosario ; Mancebo, Esther ; Martín-López, Caridad ; Martín, Vicente ; Martinez-Nieto, Oscar ; Martinez-Lopez, Iciar ; Martinez-Resendez, Michel F ; Martinez-Perez, Angel (Institut d'Investigació Biomèdica Sant Pau) ; Mazzeu, Juliana F ; Merayo Macías, Eleuterio ; Minguez, Pablo ; Moreno Cuerda, Victor ; Silbiger, Vivian N ; Oliveira, Silviene F ; Ortega-Paino, Eva ; Parellada, Mara ; Paz-Artal, Estela ; Santos, Ney P C ; Pérez-Matute, Patricia ; Perez, Patricia ; Pérez-Tomás, M Elena ; Perucho, Teresa ; Pinsach-Abuin, Mel Lina ; Pompa-Mera, Ericka N ; Porras-Hurtado, Gloria L ; Pujol, Aurora 1968- ; Ramiro León, Soraya ; Resino, Salvador ; Fernandes, Marianne R ; Rodríguez-Ruiz, Emilio ; Rodriguez-Artalejo, Fernando ; Rodriguez-Garcia, José A ; Ruiz Cabello, Francisco ; Ruiz-Hornillos, Javier ; Ryan, Pablo ; Soria Fernández, José Manuel (Institut d'Investigació Biomèdica Sant Pau) ; Souto, Juan Carlos (Institut d'Investigació Biomèdica Sant Pau) ; Tamayo, Eduardo ; Tamayo-Velasco, Alvaro ; Taracido-Fernandez, Juan Carlos ; Teper, Alejandro ; Torres-Tobar, Lilian ; Urioste, Miguel ; Valencia-Ramos, Juan ; Yáñez, Zuleima ; Zarate, Ruth ; Nakanishi, Tomoko ; Pigazzini, Sara ; Degenhardt, Frauke ; Butler-Laporte, Guillaume ; Maya-Miles, Douglas ; Bujanda, Luis ; Bouysran, Youssef ; Palom, Adriana ; Ellinghaus, David ; Martínez-Bueno, Manuel ; Rolker, Selina ; Amitrano, Sara ; Roade, Luisa ; Fava, Francesca ; Spinner, Christoph D ; Prati, Daniele ; Bernardo, D ; Garcia, Federico ; Darcis, Gilles ; Fernandez-Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ; Holter, Jan Cato ; Banales, Jesus ; Frithiof, Robert ; Duga, Stefano ; Asselta, Rosanna ; Pereira, Alexandre C ; Romero-Gómez, Manuel ; Nafría-Jiménez, Beatriz ; Hov, Johannes R. ; Migeotte, Isabelle ; Renieri, Alessandra ; Planas, Anna M ; Ludwig, Kerstin U ; Buti, Maria ; Rahmouni, Souad ; Alarcón-Riquelme, Marta E ; Schulte, Eva C ; Franke, Andre ; Karlsen, Tom H. ; Valenti, Luca ; Zeberg, Hugo ; Richards, Brent ; Ganna, Andrea ; Boada, Mercè ; De Rojas, Itziar ; Ruiz, Agustín ; Sánchez-Juan, Pascual ; Real, Luis M ; Guillen-Navarro, Encarna ; Ayuso, Carmen ; González-Neira, Anna ; Riancho, José A ; Rojas-Martinez, Augusto ; Flores, Carlos ; Lapunzina, Pablo ; Carracedo, Ángel
Here, we describe the results of a genome-wide study conducted in 11 939 coronavirus disease 2019 (COVID-19) positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE consortium). [...]
2022 - 10.1093/hmg/ddac132
Human Molecular Genetics, Vol. 31 (june 2022) , p. 3789-3806  
3.
10 p, 1.7 MB The 2019 and 2021 International Workshops on Alport Syndrome / Daga, Sergio (University of Siena) ; Ding, Jie (Peking University First Hospital) ; Savige, Judy (The University of Melbourne) ; Lipska-Ziętkiewicz, Beata S. (Medical University of Gdańsk) ; Hoefele, Julia (Technical University of Munich) ; Flinter, Frances (Guys' and St Thomas' NHS Foundation Trust) ; Gale, Daniel (UK Renal Registry. Rare Renal Disease Registry) ; Aksenova, Marina (Y. Veltischev Research and Clinical Institute for Pediatrics at the Pirogov Russian National Research Medical University) ; Kai, Hirofumi (Kumamoto University) ; Perin, Laura (University of Southern California) ; Barua, Moumita (University of Toronto) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Miner, Jeff H. (Washington University School of Medicine) ; Massella, Laura (Bambino Gesù Children's Hospital) ; Ljubanović, Danica Galešić (University of Zagreb) ; Lennon, Rachel (The University of Manchester) ; Weinstock, Andrè B. (Alport Syndrome Foundation) ; Knebelmann, Bertrand (Paris University, Paris, France) ; Cerkauskaite, Agne (Vilnius University Hospital Santariskiu Clinics) ; Gear, Susie (Alport UK, Tetbury, UK) ; Gross, Oliver (University Medical Center Göttingen) ; Turner, A. Neil (University of Edinburgh) ; Baldassarri, Margherita (Azienda Ospedaliero-Universitaria Senese) ; Pinto, Anna Maria (Azienda Ospedaliero-Universitaria Senese) ; Renieri, Alessandra (Azienda Ospedaliero-Universitaria Senese) ; Universitat Autònoma de Barcelona
In 1927 Arthur Cecil Alport, a South African physician, described a British family with an inherited form of kidney disease that affected males more severely than females and was sometimes associated with hearing loss. [...]
2022 - 10.1038/s41431-022-01075-0
European Journal of Human Genetics, march 2022, p. 1-10  
4.
40 p, 490.3 KB Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality / Nakanishi, Tomoko (Japan Society for the Promotion of Science, Tokyo) ; Pigazzini, Sara (University of Milano-Bicocca, Milano) ; Degenhardt, Frauke (Universitätsklinikum Schleswig-Holstein (Alemanya)) ; Cordioli, Mattia (Univerisity of Helsinki) ; Butler-Laporte, Guillaume (McGill University, Montréal, Québec) ; Maya-Miles, Douglas (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; Nafría-Jiménez, Beatriz (Osakidetza-Servicio Vasco de Salud, Donostia) ; Bouysran, Youssef (Université Libre de Bruxelles) ; Niemi, Mari (Univerisity of Helsinki) ; Palom, Adriana (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Ellinghaus, David (University of Copenhagen) ; Khan, Atlas (Columbia University, New York) ; Martínez-Bueno, Manuel (Universidad de Granada) ; Rolker, Selina (University Hospital Bonn (Bonn, Alemanya)) ; Amitano, Sara (Azienda Ospedaliero-Universitaria Senese) ; Roade, Luisa (Universitat Autònoma de Barcelona. Departament de Medicina) ; Fava, Francesca (University of Siena, Italy) ; Spinner, Christoph D. (Technical University of Munich) ; Prati, Daniele (Università degli Studi di Milano) ; Bernardo, D (Universidad de Valladolid) ; Garcia, Federico (Instituto de Investigación Sanitaria de Granada) ; Darcis, Gilles (Liège University Hospital (Bèlgica)) ; Fernandez-Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ; Holter, Jan Cato (Institute of Clinical Medicine, University of Oslo, Oslo, Norway) ; Banales, Jesus (Universidad del País Vasco) ; Frithiof, Robert (Uppsala University, Sweden) ; Kiryluk, Krzysztof (Columbia University, New York) ; Duga, Stefano (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ; Asselta, Rosanna (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ; Pereira, Alexandre C. (Universidade de São Paulo) ; Romero-Gómez, Manuel (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; Bujanda, Luis (Universidad del País Vasco) ; Hov, Johannes R.. (Oslo University Hospital (Oslo, Noruega)) ; Migeotte, Isabelle (Fonds de la Recherche Scientifique (FNRS), Brussels) ; Renieri, Alessandra (University of Siena, Italy) ; Planas, Anna M. (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Ludwig, Kerstin U. (University Hospital Bonn (Bonn, Alemanya)) ; Buti, Maria (Universitat Autònoma de Barcelona. Departament de Medicina) ; Rahmouni, Souad (University of Liege) ; Alarcón-Riquelme, Marta E. (Karolinska Institutet (Estocolm, Suècia)) ; Schulte, Eva C. (LMU Munich University, Munich) ; Franke, Andre (University Hospital Schleswig-Holstein, Kiel) ; Karlsen, Tom H. (Oslo University Hospital (Oslo, Noruega)) ; Valenti, Luca (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Zeberg, Hugo (Max-Planck Institute for Evolutionary Anthropology, Leipzig, Germany) ; Richards, J. Brent (King's College London) ; Ganna, Andrea (Massachusetts General Hospital (Boston))
There is considerable variability in COVID-19 outcomes amongst younger adults-and some of this variation may be due to genetic predisposition. We characterized the clinical implications of the major genetic risk factor for COVID-19 severity, and its age-dependent effect, using individual-level data in a large international multi-centre consortium. [...]
2021 - 10.1101/2021.03.07.21252875
medRxiv, march 2021  
5.
12 p, 1.8 MB Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome : refining the ACMG criteria / Savige, Judy (The University of Melbourne) ; Storey, Helen (Guy's and St Thomas' NHS Foundation Trust (Regne Unit)) ; Watson, Elizabeth (South West Genomic Laboratory Hub, North Bristol Trust) ; Hertz, Jens Michael (Odense University Hospital (Dinamarca)) ; Deltas, Constantinos (University of Cyprus. Center of Excellence in Biobanking and Biomedical Research and Molecule Medicine Center) ; Renieri, Alessandra (University of Siena. Medical Genetics) ; Mari, Francesca (Institute de Pathologie et de Genetique ASBL (Bèlgica). Departement de Biologie Moleculaire) ; Hilbert, Pascale (Institute de Pathologie et de Genetique ASBL (Bèlgica). Departement de Biologie Moleculaire) ; Plevova, Pavlina (University Hospital of Ostrava. Department of Medical Genetics, and Department of Biomedical Sciences) ; Byers, Peter (University of Washington. Departments of Pathology and Medicine) ; Cerkauskaite, Agne (Vilnius University. Institute of Biomedical Sciences) ; Gregory, Martin (University of Utah Health. Division of Nephrology) ; Cerkauskiene, Rimante (Vilnius University. Clinic of Pediatrics) ; Ljubanović, Danica Galešić (University of Zagreb) ; Becherucci, Francesca (Nephrology Unit and Meyer Children's University Hospital) ; Errichiello, Carmela (Nephrology Unit and Meyer Children's University Hospital) ; Massella, Laura (Bambino Gesù Children's Hospital) ; Aiello, Valeria (University of Bologna) ; Lennon, Rachel (The University of Manchester) ; Hopkinson, Louise (The University of Manchester Sciences, Faculty of Biology Medicine and Health) ; Koziell, Ania (King's College London) ; Lungu, Adrian (Fundeni Clinical Institute) ; Rothe, Hansjorg Martin (Centre for Nephrology and Metabolic Disorders, Weisswasser, Germany) ; Hoefele, Julia (Technische Universität München. Institut für Humangenetik) ; Zacchia, Miriam (Nephrology Unit, University of Campania) ; Martic, Tamara Nikuseva (School of Medicine University of Zagreb) ; Gupta, Asheeta (Birmingham Children's Hospital) ; van Eerde, Albertien (Utrecht University. Departments of Genetics and Center for Molecular MedicinE) ; Gear, Susie (Alport UK) ; Landini, Samuela (University of Florence. Medical Genetics Unit) ; Palazzo, Viviana (Meyer Children's University Hospital) ; al-Rabadi, Laith (University of UTAH. Health Sciences Centre) ; Claes, Kathleen (University Hospitals Leuven (Bèlgica)) ; Corveleyn, Anniek (University Hospitals Leuven (Bèlgica)) ; Van Hoof, Evelien (University Hospitals Leuven (Bèlgica)) ; van Geel, Micheel (Maastricht University Medical Center) ; Williams, Maggie (Southmead Hospital) ; Ashton, Emma (Great Ormond Street Hospital for Children (Londres)) ; Belge, Hendica (Radboud University Medical Center) ; Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Bierzynska, Agnieszka (University of Bristol. Bristol Renal Unit, Bristol Medical School) ; Gangemi, Concetta (University Hospital of Verona (Itàlia)) ; Lipska-Ziętkiewicz, Beata S. (Medical University of Gdansk. Centre for Rare Diseases, and Clinical Genetics Unit) ; Universitat Autònoma de Barcelona
The recent Chandos House meeting of the Alport Variant Collaborative extended the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 genes beyond the classical Alport phenotype (haematuria, renal failure; family history of haematuria or renal failure) to include persistent proteinuria, steroid-resistant nephrotic syndrome, focal and segmental glomerulosclerosis (FSGS), familial IgA glomerulonephritis and end-stage kidney failure without an obvious cause. [...]
2021 - 10.1038/s41431-021-00858-1
European Journal of Human Genetics, Vol. 29 (april 2021) , p. 1186-1197  
6.
18 p, 1.3 MB Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 / Zhang, Qian (St. Rockefeller University) ; Liu, Zhiyong (Rockefeller University) ; Moncada-Velez, Marcela (Rockefeller University) ; Chen, Jie (Rockefeller University) ; Ogishi, Masato (Rockefeller University) ; Bigio, Benedetta (Rockefeller University) ; Yang, Rui (Rockefeller University) ; Arias, Andrés Augusto (Universidad de Antioquia) ; Zhou, Qinhua (Rockefeller University) ; Han, Ji Eun (Rockefeller University) ; Ugurbil, Aileen Camille (Rockefeller University) ; Zhang, Peng (Rockefeller University) ; Rapaport, Franck (Rockefeller University) ; Li, Juan (Rockefeller University) ; Spaan, András N. (University Medical Center Utrecht) ; Boisson, Bertrand (University of Paris) ; Boisson-Dupuis, S. (University of Paris) ; Bustamante, J. (Necker Hospital for Sick Children) ; Puel, A. (University of Paris) ; Ciancanelli, Michael J (Turnstone Biologics) ; Zhang, Shen-Ying (University of Paris) ; Béziat, V. (University of Paris) ; Jouanguy, E. (University of Paris) ; Abel, Laurent (INSERM U1163. University of Paris) ; Cobat, A. (University of Paris) ; Casanova, Jean-Laurent (Rockefeller University) ; Bastard, Paul (University of Paris) ; Korol, Cecilia (Necker Hospital for Sick Children, Paris) ; Rosain, Jérémie (University of Paris) ; Philippot, Q. (APHP Tenon Hospital) ; Chbihi, Marwa (University of Paris. Imagine Institute) ; Lorenzo, L. (University of Paris. Imagine Institute) ; Bizien, L. (University of Paris. Imagine Institute) ; Neehus, A. L. (University of Paris. Imagine Institute) ; Kerner, G. (University of Paris. Imagine Institute) ; Seeleuthner, Y. (University of Paris. Imagine Institute) ; Manry, J. (University of Paris. Imagine Institute) ; Le Voyer, T. (University of Paris. Imagine Institute) ; Boisson, Bertrand (University of Paris. Imagine Institute) ; Boisson-Dupuis, S. (University of Paris. Imagine Institute) ; Bustamante, J. (Necker Hospital for Sick Children. AP-HP) ; Puel, A. (University of Paris. Imagine Institute) ; Zhang, S. Y. (University of Paris. Imagine Institute) ; Béziat, V. (University of Paris. Imagine Institute) ; Jouanguy, E. (University of Paris) ; Abel, Laurent (University of Paris) ; Cobat, A. (University of Paris) ; Bastard, Paul (University of Paris) ; Rosain, J. (University of Paris) ; Philippot, Q. (APHP Tenon Hospital) ; Chbihi, M. (University of Paris) ; Lorenzo, L. (University of Paris) ; Bizien, L. (University of Paris) ; Neehus, A. L. (University of Paris) ; Kerner, G. (University of Paris) ; Seeleuthner, Y. (University of Paris) ; Manry, J. (University of Paris) ; Le Voyer, T. (University of Paris) ; Boisson, Bertrand (University of Paris) ; Boisson-Dupuis, S. (University of Paris) ; Bustamante, J. (Necker Hospital for Sick Children) ; Puel, A. (University of Paris) ; Zhang, S. Y. (University of Paris) ; Béziat, Vivien (University of Paris) ; Jouanguy, Emmanuelle (University of Paris) ; Abel, Laurent (INSERM U1163. University of Paris) ; Cobat, Aurélie (University of Paris) ; Le Pen, Jérémie (Rockefeller University) ; Schneider, W. M. (Rockefeller University) ; Razooky, B. S. (Rockefeller University) ; Hoffmann, Hans-Heinrich (Rockefeller University) ; Michailidis, E. (Rockefeller University) ; Rice, Charles M. (Rockefeller University) ; Sabli, Ira K. D. (Imperial College London) ; Hodeib, Stephanie (Imperial College London) ; Sancho Shimizu, Vanessa (Imperial College London) ; Bilguvar, Kaya (Yale School of Medicine) ; Ye, Junqiang (Columbia University) ; Bolze, Alexandre (Helix) ; Zhang, Y. (NIAID Clinical Genomics Program) ; Notarangelo, Luigi (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ; Su, H. C. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ; Zhang, Y. (NIAID Clinical Genomics Program) ; Notarangelo, L. D. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ; Su, H. C. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ; Onodi, Fanny (Université de Paris) ; Korniotis, Sarantis (Université de Paris) ; Karpf, Léa (Université de Paris. Institut de Recherche Saint-Louis. INSERM U976. Hôpital Saint-Louis) ; Soumelis, V. (AP-HP. Hôpital Saint-Louis. Laboratoire d'Immunologie) ; Bonnet-Madin, Lucie (Université de Paris. Institut de Recherche Saint-Louis) ; Amara, A. (Université de Paris. Institut de Recherche Saint-Louis) ; Dorgham, Karim (Sorbonne Université. Inserm. Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI PARIS). Assistance Publique-Hôpitaux de Paris (AP-HP). Hôpital Pitié-Salpêtrière) ; Gorochov, Guy (Sorbonne Université) ; Smith, N. (Institut Pasteur) ; Duffy, Darragh (Institut Pasteur) ; Moens, L. (University Hospitals Leuven (Bèlgica)) ; Meyts, I. (KU Leuven. Department of Immunology. Microbiology and Transplantation) ; Meade, P. (Department of Microbiology) ; Garcia-Sastre, Adolfo (Tisch Cancer Institute) ; Krammer, Florian (Department of Microbiology) ; Corneau, A. (Sorbonne Université) ; Masson, C. (Imagine Institute) ; Schmitt, Y. (Imagine Institute) ; Schluter, A. (Neurometabolic Diseases Laboratory) ; Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ; Khan, T. (Sidra Medicine) ; Marr, Nico (Hamad Bin Khalifa University) ; Fellay, Jacques (Swiss Federal Institute of Technology Lausanne) ; Roussel, L. (McGill University Health Centre) ; Vinh, D. C. (McGill University Health Centre) ; Shahrooei, M. (Saeed Pathobiology and Genetic Lab) ; Alosaimi, M. F. (College of Medicine. King Saud University) ; Alsohime, F. ; Hasanato, R. (Department of Pathology and Laboratory Medicine. College of Medicine. King Saud University) ; Mansouri, D. (Shahid Beheshti University of Medical Sciences) ; Al-Saud, H. (National Center of Genomics Technology. King Abdulaziz City for Science and Technology) ; Almourfi, F. (National Center of Genomics Technology. King Abdulaziz City for Science and Technology) ; Al-Mulla, F. (Kuwait University) ; Al-Muhsen, S. Z. (Immunology Research Laboratory. Department of Pediatrics. College of Medicine. King Saud University Medical City. King Saud University) ; Al Turki, S. (Cancer & Blood Research. King Abdullah International Medical Research Center) ; van de Beek, D. (Amsterdam UMC. University Medical Center) ; Biondi, A. (Pediatric Departement. Centro Tettamanti-European Reference Network PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBM-Ospedale) ; Bettini, L. R. (Pediatric Departement. Centro Tettamanti-European Reference Network PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBM-Ospedale) ; D'Angio, Mariella (Pediatric Departement. Centro Tettamanti-European Reference Network PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBM-Ospedale) ; Bonfanti, Paolo (Department of Infectious Diseases. San Gerardo Hospital. University of Milano-Bicocca) ; Imberti, L. (CREA Laboratory. Diagnostic Laboratory. ASST Spedali Civili di Brescia) ; Sottini, A. (CREA Laboratory. Diagnostic Laboratory. ASST Spedali Civili di Brescia) ; Paghera, S. (CREA Laboratory. Diagnostic Laboratory. ASST Spedali Civili di Brescia) ; Quiros-Roldan, E. (Department of Infectious and Tropical Diseases. University of Brescia. ASST Spedali di Brescia) ; Rossi, C. (Medical Officer. ASST Spedali Civili di Brescia) ; Oler, A. J. (Bioinformatics and Computational Biosciences Branch. Office of Cyber Infrastructure and Computational Biology. NIAID. NIH) ; Tompkins, M. F. (PRIMER. Uniformed Services University of the Health Sciences) ; Alba, Camille (PRIMER. Uniformed Services University of the Health Sciences) ; Dalgard, C. L. (American Genome Center. Uniformed Services University of the Health Sciences) ; Vandernoot, Isabelle (Center of Human Genetics. Hôpital Erasme. Université Libre de Bruxelles) ; Smits, Guillaume (Center of Human Genetics. Hôpital Erasme. Université Libre de Bruxelles) ; Goffard, Jean-Christope (Department of Internal Medicine. Hôpital Erasme. Université Libre de Bruxelles) ; Migeotte, Isabelle (Hôpital Erasme) ; Haerynck, Filomeen (Department of Paediatric Immunology and Pulmonology. Centre for Primary Immunodeficiency Ghent (CPIG). PID Research Lab. Jeffrey Modell Diagnosis and Research Centre. Ghent University Hospital) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ; Morange, Pierre-Emmanuel (Aix Marseille Univ) ; Keles, Sevgi (Meram Medical Faculty. Necmettin Erbakan University. Meram Medical Faculty) ; Çölkesen, Fatma (Department of Infectious Diseases and Clinical Microbiology. Konya Training and Research Hospital) ; Ozcelik, Tayfun (Bilkent University) ; Yasar, Tayfun Kart (Departments of Infectious Diseases and Clinical Microbiology. Bakirkoy Dr. Sadi Konuk Training and Research Hospital. University of Health Sciences) ; Senoglu, Sevtap (Departments of Infectious Diseases and Clinical Microbiology. Bakirkoy Dr. Sadi Konuk Training and Research Hospital. University of Health Sciences) ; Karabela, Şemsi Nur (Departments of Infectious Diseases and Clinical Microbiology. Bakirkoy Dr. Sadi Konuk Training and Research Hospital. University of Health Sciences) ; Rodríguez-Gallego, Carlos (Hospital Universitario de Gran Canaria Dr. Negrín) ; Novelli, Giuseppe (University of Rome "Tor Vergata) ; Hraiech, Sami (Intensive Care Unit) ; Tandjaoui-Lambiotte, Yacine (Avicenne Hospital) ; Duval, Xavier (Hôpital Bichat Claude Bernard) ; Laouénan, Cédric (Hôpital Bichat) ; Duval, X. (Hôpital Bichat Claude Bernard) ; Snow, Andrew (Uniformed Services University of the Health Sciences, Bethesda) ; Dalgard, Clifton L. (American Genome Center) ; Milner, Joshua D. (Columbia University) ; Mogensen, Trine Hyrup (Aarhus University) ; Spaan, András N. (Univer-sity Medical Center Utrecht) ; Bustamante, Jacinta (Necker Hospital for Sick Children) ; Ciancanelli, Michael J. (Turnstone Biologics) ; Maniatis, Tom (New York Genome Center) ; Soumelis, Vassili (Hôpital Saint-Louis, Paris) ; Nussenzweig, Michel (Howard Hughes Medical Institute) ; Garcia-Sastre, Adolfo (Icahn School of Medicine) ; Lifton, Richard P. (Yale School of Medicine) ; Foti, Giuseppe (University of Milano-Bicocca) ; Bellani, G. (University of Milano-Bicocca) ; Citerio, Giuseppe (University of Milano-Bicocca) ; Contro, E. (University of Milano-Bicocca) ; Pesci, Alberto (University of Milano-Bicocca.) ; Valsecchi, M. G. (University of Milano-Bicocca) ; Cazzaniga, M. (University of Milano-Bicocca) ; Abad Capa, Jorge (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Blanco Guillermo, Ignacio (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Rodrigo, C. (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Aguilera-Albesa, Sergio (Complejo Hospitalario de Navarra) ; Akcan, O. M. (Necmettin Erbakan University) ; Darazam, I. A. (Shahid Beheshti University of Medical Sciences) ; Aldave, J. C. (Hospital Nacional Edgardo Rebagliati Martins) ; Ramos, M. A. (Parc Sanitari Sant Joan de Déu) ; Nadji, S. A. (Shahid Beheshti University of Medical Sciences) ; Alkan, G. (Selcuk University) ; Allardet-Servent, J. (Hôpital Européen) ; Allende-Martinez, Luis M (Hospital Universitario 12 de Octubre (Madrid)) ; Alsina, L. (Hospital Sant Joan de Déu (Manresa)) ; Alyanakian, M. A. (Necker Hospital for Sick Children) ; Amador-Borrero, B. (Université de Paris) ; Mouly, S. (Internal Medicine Department. Hôpital Lariboisière. APHP. Université de Paris) ; Sene, D. (Internal Medicine Department. Hôpital Lariboisière. APHP. Université de Paris) ; Amoura, Zahir (Internal Medicine Department. Pitié-Salpétrière Hospital) ; Mathian, Alexis (Internal Medicine Department. Pitié-Salpétrière Hospital) ; Antolí, Arnau (Hospital Universitari de Bellvitge) ; Blanch, G. R. (Hospital Universitari de Bellvitge) ; Riera, J. S. (Hospital Universitari de Bellvitge) ; Moreno, X. S. (Hospital Universitari de Bellvitge) ; Arslan, S. (Necmettin Erbakan University) ; Assant, S. (Lyon Sud Hospital) ; Auguet, Teresa (Hospital Universitari Joan XXIII de Tarragona) ; Azot, A. (Private Practice) ; Bajolle, F. (Necker Hospital for Sick Children) ; Bustamante, J. (Necker Hospital for Sick Children) ; Lévy, R. (Necker Hospital for Sick Children) ; Oualha, M. (Necker Hospital for Sick Children) ; Baldolli, A. (Department of Infectious Diseases) ; Ballester Devis, Maria (Consorcio Hospital General Universitario) ; Feldman, H. B. (Tel Aviv University) ; Barrou, B. (Sorbonne Université.) ; Beurton, Alexandra (Hôpital Pitié-Salpêtrière) ; Bilbao, A. (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Blanchard-Rohner, G. (Geneva University Hospitals (Suïssa)) ; Blandinières, A. (Georges Pompidou Hospital) ; Rivet, N. (Georges Pompidou Hospital) ; Blázquez-Gamero, Daniel (Hospital Universitario 12 de Octubre (Madrid)) ; Bloomfield, M. (Motol University Hospital) ; Bolivar-Prados, Mireia (Hospital de Mataró. Consorci Sanitari del Maresme) ; Clavé i Civit, Pere (rie, R.) ; Bosteels, C. (Universitair Ziekenhuis Gent) ; Lambrecht, B. N. (Universitair Ziekenhuis Gent) ; van Braeckel, E. (Universitair Ziekenhuis Gent) ; Bousfiha, Ahmed A (Averroes University Hospital D'Inflammation et d'Allergie. Hassann II University) ; Bouvattier, C. (Endocrinology Unit. APHP Hôpitaux Universitaires Paris-Sud) ; Vincent, A. (Endocrinology Unit. APHP Hôpitaux Universitaires Paris-Sud) ; Boyarchuk, O. (I. Horbachevsky Ternopil National Medical University) ; Bueno, M. R. P. (University of São Paulo) ; Castro, M. V. (University of São Paulo) ; Matos, L. R. B. (University of São Paulo) ; Zatz, M. (Human Genome and Stem-Cell Research Center. University of São Paulo) ; Agra, J. J. C. (Hospital Universitario Insular de Gran Canaria) ; Calimli, S. (Konya State Hospital) ; Capra, R. (Spedali Civili) ; Carrabba, M. (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico) ; Fabio, G. (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico) ; Casasnovas, Carlos (Hospital Universitari de Bellvitge) ; Vélez-Santamaria, V. (Hospital Universitari de Bellvitge) ; Caseris, M. (Hopital Robert Debré) ; Falck, A. (Hopital Robert Debré) ; Poncelet, G. (Hopital Robert Debré) ; Castelle, M. (Necker Enfants Malades Hospital) ; Castelli, F. (University of Brescia) ; de Vera, M. C. (Canarian Health System) ; Catherinot, E. (Hôpital Foch) ; Chalumeau, M. (Necker Hospital for Sick Children) ; Toubiana, J. (Necker Hospital for Sick Children) ; Charbit, B. (Pasteur Institute) ; Li, Z. (Pasteur Institute) ; Pellegrini, S. (Pasteur Institute) ; Cheng, M. P. (McGill University Health Centre) ; Clotet Sala, Bonaventura (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Codina, A. (Institut de Recerca Sant Joan de Déu) ; Çölkesen, F. (Necmettin Erbakan University) ; Çölkesen, F. (Konya Training and Research Hospital) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ; Comarmond, C. (Pitié-Salpêtrière Hospital) ; Dalmau, David (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Darley, D. R. (Vincent's Hospital Darlinghurst) ; Dauby, N. (Université Libre de Bruxelles) ; Dauger, S. (Robert-Debré University Hospital) ; Le Bourgeois, F. (Robert-Debré University Hospital) ; Levy, M. (Robert-Debré University Hospital) ; de Pontual, L. (Hôpital Jean Verdier) ; Dehban, A. (Sina Medical Complex) ; Delplancq, G. (Centre de Génétique Humaine) ; Demoule, A. (Sorbonne Université Médecine) ; Diehl, J. L. (Georges Pompidou Hospital) ; Dobbelaere, S. (AZ Delta) ; Durand, Sophie (Institut Jérôme Lejeune) ; Mircher, C. (Institut Jérôme Lejeune) ; Rebillat, A. S. (Institut Jérôme Lejeune) ; Vilaire, M. E. (Institut Jérôme Lejeune) ; Eldars, W. (DMansoura University) ; Elgamal, M. (Mansoura University) ; Elnagdy, M. H. (Mansoura University) ; Emiroglu, M. (Selcuk University) ; Erdeniz, E. H. (Ondokuz Mayıs University) ; Aytekin, S. E. (Necmettin Erbakan University) ; Euvrard, R. (Centre Hospitalier Fleyriat) ; Evcen, R. (Necmettin Erbakan University) ; Faivre, L. (CHU Dijon) ; Fartoukh, M. (APHP Tenon Hospital) ; Philippot, Q. (APHP Tenon Hospital) ; Faure, M. (Sorbonne Universités) ; Arquero, M. F. (Hospital Clínico San Carlos (Madrid)) ; Flores, Carlos (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ; Francois, B. (CHU Limoges) ; Fumadó, Victoria (Universitat de Barcelona) ; Fusco, Francesca (Institute of Genetics and Biophysics "Adriano Buzzati-Traverso) ; Ursini, M. V. (Institute of Genetics and Biophysics "Adriano Buzzati-Traverso) ; Solis, B. G. (Hospital Universitario La Paz (Madrid)) ; de Diego, R. P. (Hospital Universitario La Paz (Madrid)) ; van Den Rym, A. M. (Hospital Universitario La Paz (Madrid)) ; Gaussem, P. (Department of Hematology. APHP. Hopital Européen Georges Pompidou. Inserm UMR-S1140) ; Gil-Herrera, J. (Hos-pital General Universitario. Instituto de Investigación Sanitaria "Gregorio Marañón) ; Gilardin, L. (Bégin Military Hospital) ; Girona-Alarcón, Mònica (Hospital Sant Joan de Déu (Manresa)) ; Goffard, J. C. (Université Libre de Bruxelles) ; Gok, F. (Necmettin Erbakan University) ; Yosunkaya, A. (Necmettin Erbakan University) ; Thy, M. (Center for Clinical Investigation. Assistance Publique-Hôpitaux de Paris. Bichat-Claude Bernard University Hospital) ; van Agtmael, Michiel (Department of Infectious Diseases. Amsterdam UMC) ; Bomers, Marije (Department of Infectious Diseases. Amsterdam UMC) ; Chouchane, Osoul (Department of Infectious Diseases. Amsterdam UMC) ; Geerlings, Suzanne (Department of Infectious Diseases. Amsterdam UMC) ; Goorhuis, Bram (Department of Infectious Diseases. Amsterdam UMC) ; Grobusch, Martin P. (Department of Infectious Diseases. Amsterdam UMC) ; Harris, Vanessa (Department of Infectious Diseases. Amsterdam UMC) ; Hermans, Sabine M. (Department of Infectious Diseases. Amsterdam UMC) ; Hovius, Joppe W. (Department of Infectious Diseases. Amsterdam UMC) ; Nellen, Jeaninne (Department of Infectious Diseases. Amsterdam UMC) ; Peters, Edgar (Department of Infectious Diseases. Amsterdam UMC) ; van der Poll, Tom (Department of Infectious Diseases. Amsterdam UMC) ; Prins, Jan M. (Department of Infectious Diseases. Amsterdam UMC) ; Reijnders, Tom (Department of Infectious Diseases. Amsterdam UMC) ; Schinkel, Michiel (Department of Infectious Diseases. Amsterdam UMC) ; Sigaloff, Kim (Department of Infectious Diseases. Amsterdam UMC) ; Stijnis, Cornelis S. (Department of Infectious Diseases. Amsterdam UMC) ; van der Valk, Marc (Department of Infectious Diseases. Amsterdam UMC) ; van Vugt, Michèle (Department of Infectious Diseases. Amsterdam UMC) ; Joost Wiersinga, W. (Department of Infectious Diseases. Amsterdam UMC) ; Algera, Anna Geke (Department of Intensive Care. Amsterdam UMC) ; van Baarle, Frank (Department of Intensive Care. Amsterdam UMC) ; Bos, Lieuwe D.. (Department of Intensive Care. Amsterdam UMC) ; Botta, Michela (Department of Intensive Care. Amsterdam UMC) ; de Bruin, Sanne (Department of Intensive Care. Amsterdam UMC) ; Bulle, Esther (Department of Intensive Care. Amsterdam UMC) ; Elbers, Paul (Department of Intensive Care. Amsterdam UMC) ; Fleuren, Lucas (Department of Intensive Care. Amsterdam UMC) ; Girbes, Armand (Department of Intensive Care. Amsterdam UMC) ; Hagens, Laura (Department of Intensive Care. Amsterdam UMC) ; Heunks, Leo (Department of Intensive Care. Amsterdam UMC) ; Horn, Janneke (Department of Intensive Care. Amsterdam UMC) ; van Mourik, Niels (Department of Intensive Care. Amsterdam UMC) ; Paulus, Frederique (Department of Intensive Care. Amsterdam UMC) ; Raasveld, Jorinde (Department of Intensive Care. Amsterdam UMC) ; Schultz, Marcus J. (Department of Intensive Care. Amsterdam UMC) ; Smit, Marry (Department of Intensive Care. Amsterdam UMC) ; Stilma, Willemke (Department of Intensive Care. Amsterdam UMC) ; Thoral, Patrick (Department of Intensive Care. Amsterdam UMC) ; Tsonas, Anissa M (Department of Intensive Care. Amsterdam UMC) ; de Vries, Heder (Department of Intensive Care. Amsterdam UMC) ; Bax, Diane (Experimental Immunology. Amsterdam UMC) ; Cloherty, Alex (Experimental Immunology. Amsterdam UMC) ; Beudel, Martijn (Department of Neurology. Amsterdam UMC. Amsterdam Neuroscience) ; Brouwer, Matthijs C. (Department of Neurology. Amsterdam UMC. Amsterdam Neuroscience) ; Koning, Rutger (Department of Neurology. Amsterdam UMC. Amsterdam Neuroscience) ; van de Beek, Diederik (Amsterdam UMC. University Medical Center) ; Bogaard, H. J. (Department of Pulmonology. Amsterdam UMC) ; de Brabander, J. (Department of Infectious Diseases. Amsterdam UMC) ; de Bree, G. (Department of Infectious Diseases. Amsterdam UMC) ; Bugiani, Marianna (Department of Pathology. Amsterdam UMC) ; Geerts, Bart (Department of Anesthesiology. Amsterdam UMC) ; Hollmann, Markus W. (Department of Anesthesiology. Amsterdam UMC) ; Preckel, Benedikt (Department of Anesthesiology. Amsterdam UMC) ; Veelo, Denise (Department of Anesthesiology. Amsterdam UMC) ; Geijtenbeek, Theo (Department of Experimental Immunology. Amsterdam UMC) ; Hafkamp, Florianne (Department of Experimental Immunology. Amsterdam UMC) ; Hamann, Jorg (Amsterdam UMC Biobank Core Facility. Amsterdam UMC) ; Hemke, Robert (Department of Radiology. Amsterdam UMC) ; de Jong, Menno D. (Department of Medical Microbiology. Amsterdam UMC) ; Schuurman, Alex (Department of Internal Medicine. Amsterdam UMC) ; Teunissen, Charlotte (Neurochemical Laboratory. Amsterdam UMC) ; Vlaar, Alexander P. J. (Department of Intensive Care. Amsterdam UMC) ; Wouters, Dorien (Department of Clinical Chemistry. Amsterdam UMC) ; Zwinderman, A. H. (Department of Clinical Epidemiology. Biostatistics and Bioinformatics. Amsterdam UMC) ; Abel, Laurent (INSERM U1163. University of Paris. Imagine Institute) ; Aiuti, Alessandro (San Raffaele Telethon Institute for Gene Therapy. IRCCS Ospedale San Raffaele) ; Muhsen, Saleh Al (King Saud University) ; Al-Mulla, Fahd (Kuwait University) ; Anderson, Mark S. (University of California. San Francisco) ; Feldman, Hagit Baris (Genetics Institute. Tel Aviv Sourasky Medical Center. Sackler Faculty of Medicine. Tel Aviv University) ; Bogunovic, Dusan (Icahn School of Medicine) ; Itan, Yuval (Icahn School of Medicine) ; Bolze, Alexandre (Helix) ; Cirulli, Elizabeth (Helix) ; Barrett, Kelly Schiabor . (Helix) ; Washington, Nicole (Helix) ; Bondarenko, Anastasiia (Shupyk National Medical Academy for Postgraduate Education) ; Bousfiha, Ahmed A. (Clinical Immunology Unit. Pediatric Infectious Disease Departement. Faculty of Medicine and Pharmacy. Averroes University Hospital. LICIA Laboratoire d'Immunologie Clinique. D'Inflammation et d'Allergie. Hassann II University) ; Brodin, Petter (Karolinska Institutet (Estocolm, Suècia)) ; Bryceson, Yenan (Karolinska Institutet (Estocolm, Suècia)) ; Bustamante, Carlos D. (Stanford University) ; Butte, Manish J (University of California) ; Casari, Giorgio (Medical Genetics. IRCCS Ospedale San Raffaele) ; Chakravorty, Samya (Emory University. Department of Pediatrics. Children's Healthcare of Atlanta) ; Christodoulou, John (Murdoch Children's Research Institute) ; Le Mestre, S. (University of São Paulo) ; Condino-Neto, Antonio (University of São Paulo) ; Cooper, Megan A. (Washington University School of Medicine) ; Dalgard, Clifton L. (American Genome Center. Uniformed Services University of the Health Sciences) ; David, Alessia (Centre for Bioinformatics and System Biology. Department of Life Sciences. Imperial College London. South Kensington Campus) ; DeRisi, Joseph L. (Chan Zuckerberg Biohub) ; Desai, Murkesh (Bai Jerbai Wadia Hospital for Children) ; Drolet, Beth A. (School of Medicine and Public Health. University of Wisconsin) ; Espinosa, Sara (Instituto Nacional de Pediatria. (National Institute of Pediatrics)) ; Fellay, Jacques (Swiss Federal Institute of Technology Lausanne) ; Flores, Carlos (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ; Franco, Jose Luis (University of Antioquia) ; Gregersen, Peter K. (Feinstein Institute for Medical Research. Northwell Health USA) ; Haerynck, Filomeen (Department of Paediatric Immunology and Pulmonology. Centre for Primary Immunodeficiency Ghent (CPIG). PID Research Lab. Jeffrey Modell Diagnosis and Research Centre. Ghent University Hospital) ; Hagin, David (Genetics Institute. Tel Aviv Sourasky Medical Center) ; Halwani, Rabih (Sharjah Institute of Medical Research. College of Medicine. University of Sharjah) ; Heath, Jim (Institute for Systems Biology) ; Henrickson, Sarah E. (Children's Hospital of Philadelphia (Pennsilvània)) ; Hsieh, Elena (Anschutz Medical Campus) ; Imai, Kohsuke (Riken) ; Karamitros, Timokratis (Hellenic Pasteur Institute) ; Kisand, Kai (University of Tartu) ; Ku, Cheng-Lung. (Chang Gung University) ; Lau, Yu-Lung (University of Hong Kong) ; Ling, Yun (Shanghai Public Health Clinical Center. Fudan University) ; Lucas, Carrie L. (Yale School of Medicine) ; Mansouri, Davoud (Shahid Beheshti University of Medical Sciences) ; Marodi, Laszlo (Semmelweis University Budapest) ; Milner, Joshua (Columbia University Medical Center) ; Mironska, Kristina (University Clinic for Children's Diseases) ; Morio, Tomohiro (Tokyo Medical & Dental University Hospital) ; Notarangelo, Luigi (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ; Su, Helen C. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ; Novelli, Antonio (Bambino Gesù Children's Hospital) ; Novelli, Giuseppe (Department of Biomedicine and Prevention. University of Rome "Tor Vergata) ; O'Farrelly, Cliona (Trinity College) ; Okada, Satoshi (Hiroshima University) ; Ozcelik, Tayfun (Bilkent University) ; Perez de Diego, Rebeca (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Planas, Anna M. (IIBB-CSIC. IDIBAPS) ; Prando, Carolina (Faculdades Pequeno Príncipe. Instituto de Pesquisa Pelé Pequeno Príncipe) ; Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ; Quintana-Murci, Luis (Institut Pasteur. CNRS. UMR 2000. Collège de France) ; Renia, Laurent (Infectious Diseases Horizontal Technology Center. Singapore Immunology Network. Agency for Science Technology (A*STAR)) ; Renieri, Alessandra (Medical Genetics. University of Siena) ; Rodríguez-Gallego, Carlos (Hospital Universitario de Gran Canaria Dr. Negrín) ; Sancho Shimizu, Vanessa (Imperial College London) ; Sankaran, Vijay (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ; Shahrooei, Mohammed (Saeed Pathobiology and Genetic Lab) ; Snow, Andrew (Uniformed Services University of the Health Sciences) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ; Tangye, Stuart (Garvan Institute of Medical Research (Darlinghurst, Austràlia)) ; Turvey, Stuart (University of British Columbia) ; Uddin, Furkan (Holy Family Red Crescent Medical College. Centre for Precision Therapeutics. NeuroGen Children's Healthcare. Genetics and Genomic Medicine Centre. NeuroGen Children's Healthcare) ; Uddin, Mohammed J. (Centre for Applied Genomics. Department of Genetics and Genome Biology. Hospital for Sick Children) ; van de Beek, Diederik (Amsterdam UMC. University Medical Center) ; Vazquez, Sara E. (University of California) ; Vinh, Donald C. (McGill University Health Centre) ; von Bernuth, Horst (Charité-Berlin University Hospital Center) ; Zawadzki, Pawel (Molecular Biophysics Division. Faculty of Physics. A. Mickiewicz University) ; Jing, H. (NIAID Clinical Genomics Program. National Institutes of Health) ; Tung, W. (NIAID Clinical Genomics Program. National Institutes of Health) ; Meguro, K. (NIAID Clinical Genomics Program. National Institutes of Health) ; Shaw, E. (NIAID Clinical Genomics Program. National Institutes of Health) ; Jing, Huie (NIAID Clinical Genomics Program. National Institutes of Health) ; Tung, Wesley (NIAID Clinical Genomics Program. National Institutes of Health) ; Shafer, S. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Zheng, L. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Zhang, Z. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Kubo, S. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Chauvin, S. D. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Meguro, K. (NIAID Clinical Genomics Program. National Institutes of Health) ; Shaw, Elana (NIAID Clinical Genomics Program. National Institutes of Health) ; Lenardo, M. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Luthers, Christopher R. (Department of Pharmacology & Molecular Therapeutics. Uniformed Services University of the Health Sciences) ; Bauman, Bradly M. (Department of Pharmacology & Molecular Therapeutics. Uniformed Services University of the Health Sciences) ; Shafer, Samantha (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Zheng, Lixin (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Zhang, Zinan (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Kubo, Satoshi (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Chauvin, Samuel D. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Lenardo, Michael (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Lack, Justin (NIAID Collaborative Bioinformatics Resource. Frederick National Laboratory for Cancer Research. Leidos Biomedical Research. Inc.) ; Karlins, Eric (Bioinformatics and Computational Biosciences Branch. Office of Cyber Infrastructure and Computational Biology. NIAID. NIH) ; Hupalo, Daniel M. (American Genome Center. Uniformed Services University of the Health Sciences) ; Rosenberger, John (American Genome Center. Uniformed Services University of the Health Sciences) ; Sukumar, Gauthaman (American Genome Center. Uniformed Services University of the Health Sciences) ; Wilkerson, Matthew D. (American Genome Center. Uniformed Services University of the Health Sciences) ; Zhang, Xijun (American Genome Center. Uniformed Services University of the Health Sciences) ; Universitat Autònoma de Barcelona
Clinical outcome upon infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ranges from silent infection to lethal coronavirus disease 2019 (COVID-19). We have found an enrichment in rare variants predicted to be loss-of-function (LOF) at the 13 human loci known to govern Toll-like receptor 3 (TLR3)- and interferon regulatory factor 7 (IRF7)-dependent type I interferon (IFN) immunity to influenza virus in 659 patients with life-threatening COVID-19 pneumonia relative to 534 subjects with asymptomatic or benign infection. [...]
2020 - 10.1126/science.abd4570
Science, Vol. 370 Núm. 6515 (23 2020) , p. eabd4570  
7.
10 p, 757.2 KB Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males / Baldassarri, Margherita (University of Siena. Department of Medical Biotechnologies) ; Picchiotti, Nicola (University of Pavia. Department of Mathematics) ; Fava, Francesca (Azienda Ospedaliero-Universitaria Senese (Itàlia)) ; Fallerini, Chiara (University of Siena. Department of Medical Biotechnologies) ; Benetti, Elisa (University of Siena. Department of Medical Biotechnologies) ; Daga, Sergio (University of Siena. Department of Medical Biotechnologies) ; Valentino, Floriana (University of Siena. Department of Medical Biotechnologies) ; Doddato, Gabriella (University of Siena. Department of Medical Biotechnologies) ; Furini, Simone (University of Siena. Department of Medical Biotechnologies) ; Giliberti, Annarita (University of Siena. Department of Medical Biotechnologies) ; Tita, Rossella (Azienda Ospedaliero-Universitaria Senese (Itàlia)) ; Amitrano, Sara (Azienda Ospedaliero-Universitaria Senese (Itàlia)) ; Bruttini, Mirella (Azienda Ospedaliero-Universitaria Senese (Itàlia)) ; Croci, Susanna (University of Siena. Department of Medical Biotechnologies) ; Meloni, Ilaria (University of Siena. Department of Medical Biotechnologies) ; Pinto, Anna Maria (Azienda Ospedaliero-Universitaria Senese (Itàlia)) ; Iuso, Nicola (University of Siena. Department of Medical Biotechnologies) ; Gabbi, Chiara ; Sciarra, Francesca (Sapienza University of Rome. Department of Experimental Medicine) ; Venneri, Mary Anna (Sapienza University of Rome. Department of Experimental Medicine) ; Gori, Marco (Université Côte d'Azur) ; Sanarico, Maurizio ; Crawley, Francis P. (Good Clinical Practice Alliance-Europe (GCPA) and Strategic Initiative for Developing Capacity in Ethical Review-Europe (SIDCER) (Leuven, Bèlgica)) ; Pagotto, Uberto (University of Bologna. Department of Medical and Surgical Sciences) ; Fanelli, Flaminia (University of Bologna. Department of Medical and Surgical Sciences) ; Mezzullo, Marco (University of Bologna. Department of Medical and Surgical Sciences) ; Domínguez-Garrido, Elena (Fundación Rioja Salud. Molecular Diagnostic Unit) ; Planas-Serra, Laura (Spanish Covid HGE) ; Schlüter, Agatha (Spanish Covid HGE) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Lapunzina, Pablo (Hospital Universitario La Paz (Madrid)) ; Tenorio, Jair (Hospital Universitario La Paz (Madrid)) ; Pujol, Aurora 1968- (Institució Catalana de Recerca i Estudis Avançats) ; Castagna, Maria Grazia (University of Siena. Department of Medical, Surgical and Neurological Sciences) ; Marcelli, Marco (Baylor College of Medicine (Houston, Estats Units d'Amèrica). Department of Medicine) ; Isidori, Andrea M. (Sapienza University of Rome. Department of Experimental Medicine) ; Renieri, Alessandra (Azienda Ospedaliero-Universitaria Senese (Itàlia)) ; Frullanti, Elisa (University of Siena. Department of Medical, Surgical and Neurological Sciences) ; Mari, Francesca (Azienda Ospedaliero-Universitaria Senese (Itàlia)) ; Universitat Autònoma de Barcelona
While SARS-CoV-2 similarly infects men and women, COVID-19 outcome is less favorable in men. Variability in COVID-19 severity may be explained by differences in the host genome. We compared poly-amino acids variability from WES data in severely affected COVID-19 patients versus SARS-CoV-2 PCR-positive oligo-asymptomatic subjects. [...]
2021 - 10.1016/j.ebiom.2021.103246
EBioMedicine, Vol. 65 (february 2021) , p. 103246  
8.
9 p, 1.5 MB Advances and unmet needs in genetic, basic and clinical science in Alport syndrome : report from the 2015 International Workshop on Alport Syndrome / Gross, Oliver (University Medicine Goettingen (Germany)) ; Kashtan, Clifford E. (University of Minnesota Medical School (USA)) ; Rheault, Michelle N. (University of Minnesota Medical School (USA)) ; Flinter, Frances (Guy's and St Thomas' NHS Foundation Trust (United Kingdom)) ; Savige, Judith (The University of Melbourne (Australia)) ; Miner, Jeffrey H. (Washington University School of Medicine (USA)) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Deltas, Constantinos (University of Cyprus) ; Savva, Isavella (University of Cyprus) ; Perin, Laura (University of Southern California, Children's Hospital Los Angeles (USA)) ; Renieri, Alessandra (University of Siena (Italy)) ; Ariani, Francesca (University of Siena (Italy)) ; Mari, Francesca (University of Siena (Italy)) ; Baigent, Colin (University of Oxford (United Kingdom)) ; Judge, Parminder (University of Oxford (United Kingdom)) ; Knebelman, Bertrand (Université Paris Descartes (France)) ; Heidet, Laurence (Clinique Maurice Lamy, Hôpital Necker-Enfants Malades (France)) ; Lagas, Sharon (Alport Syndrome Foundation (USA)) ; Blatt, Dave (Alport Foundation of Australia) ; Ding, Jie (Peking University First Hospital (China)) ; Zhang, Yanqin (Peking University First Hospital (China)) ; Gale, Daniel (University College London-Centre for Nephrology (United Kingdom)) ; Prunotto, Marco (F. Hoffmann-La Roche Ltd. Roche Pharma Research & Early Development (Switzerland)) ; Xue, Yong (Global Clinical Development. Sanofi Genzyme (The Netherlands)) ; Schachter, Asher D. (Novartis Institutes for BioMedical Research (USA)) ; Morton, Lori C. G. (Regeneron Pharmaceuticals (USA)) ; Blem, Jacqui (Regulus Therapeutics (USA)) ; Huang, Michael (Regulus Therapeutics (USA)) ; Liu, Shiguang (Sanofi-Genzyme R&D Center (USA)) ; Vallee, Sebastien (Discovery Biology. Shire (USA)) ; Renault, Daniel (FEDERG (Belgium)) ; Schifter, Julia (Alport Israel) ; Skelding, Jules (Alport UK (United Kingdom)) ; Gear, Susie (Alport UK (United Kingdom)) ; Friede, Tim (University Medical Center Goettingen (Germany)) ; Turner, A. Neil (University of Edinburgh (United Kingdom)) ; Lennon, Rachel (University of Manchester (United Kingdom)) ; Universitat Autònoma de Barcelona
Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the COL4A3, COL4A4 or COL4A5 genes encoding the α3α4α5(IV) collagen heterotrimer. [...]
2017 - 10.1093/ndt/gfw095
Nephrology Dialysis Transplantation, Vol. 32, Issue 6 (June 2017) , p. 916-924  

See also: similar author names
2 Renieri, A.
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