Artículos

Artículos Encontrados 18 registros  anterior11 - 18  ir al registro: La búsqueda tardó 0.02 segundos. 
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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  
12.
17 p, 2.5 MB Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction / Català-Moll, Francesc (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Ferreté-Bonastre, Anna G. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Li, Tianlu (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Weichenhan, Dieter (German Cancer Research Center (DKFZ)) ; Lutsik, Pavlo (German Cancer Research Center (DKFZ)) ; Ciudad, Laura (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Álvarez-Prado, Ángel F. (Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares) ; Rodríguez-Ubreva, Javier (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Klemann, Christian (University of Freiburg) ; Speckmann, Carsten (University of Freiburg) ; Vilas-Zornoza, Amaya (Universidad de Navarra) ; Abolhassani, Hassan (Karolinska University) ; Martínez Gallo, Mónica (Hospital Universitari Vall d'Hebron) ; Dieli-Crimi, Romina (Hospital Universitari Vall d'Hebron) ; Rivière, Jacques G.. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Colobrán Oriol, Roger (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Kracker, Sven (Universite de Paris) ; Hammarström, Lennart (Karolinska University) ; Prosper, Felipe (Universidad de Navarra) ; Durandy, Anne (Universite de Paris) ; Grimbacher, Bodo (University of Freiburg) ; Plass, Christoph (German Cancer Research Center (DKFZ)) ; Ballestar, Esteban (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Activation-induced deaminase (AID) initiates antibody diversification in germinal center B cells by deaminating cytosines, leading to somatic hypermutation and class-switch recombination. Loss-of-function mutations in AID lead to hyper-IgM syndrome type 2 (HIGM2), a rare human primary antibody deficiency. [...]
2021 - 10.1093/nar/gkab322
Nucleic acids research, Vol. 49, Issue 9 (May 2021) , p. 5057-5073  
13.
14 p, 1.9 MB Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations / 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  
14.
10 p, 392.2 KB Clinical Presentations and Outcomes Related to Tuberculosis in Children Younger Than 2 Years of Age in Catalonia / Soriano-Arandes, Antoni (Hospital Universitari Vall d'Hebron) ; Brugueras Torrella, Silvia (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública) ; Rodríguez Chitiva, Alejandro (Hospital Universitari Vall d'Hebron) ; Noguera-Julian, Antoni (Red de Investigación Translacional en Infectología Pediátrica (RITIP)) ; Orcau, Àngels (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron) ; Millet, Joan-Pau (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ; Vallmanya, Teresa (Hospital Arnau de Vilanova (Lleida, Catalunya)) ; Méndez, Maria (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Coll-Sibina, Maite (Hospital General de Granollers) ; Mayol, Lluís (Hospital Universitari de Girona Doctor Josep Trueta) ; Clopés, Asumpció (Pediatrics, Hospital Pius) ; Pineda, Valentí (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; García, Lourdes (Pediatrics, Consorci Sanitari del Maresme) ; López, Nuria (Hospital del Mar (Barcelona, Catalunya)) ; Calavia, Olga (Hospital Universitari Joan XXIII de Tarragona) ; Rius, Neus (Hospital Universitari Sant Joan de Reus (Tarragona)) ; Pérez-Porcuna, Tomás M. (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ; Caylà, Joan A.. (Fundació de la Unitat d'Investigació en Tuberculosi de Barcelona)
Introduction: Children younger than 2 years have an increased risk of complications associated with tuberculosis (TB) due to the immaturity of the innate and adaptive immune response. We aimed to identify TB clinical presentations and outcomes as well as risk factors for complications in this age group. [...]
2019 - 10.3389/fped.2019.00238
Frontiers in Pediatrics, Vol. 7 (june 2019)  
15.
16 p, 409.2 KB Epidemiology of congenital chagas disease 6 years after implementation of a public health surveillance system, Catalonia, 2010 to 2015 / Basile, Luca (Servei Català de la Salut) ; Ciruela, Pilar (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ; Requena-Méndez, Ana (Barcelona Institute for Global Health (ISGlobal)) ; José Vidal, M. A. (Servei Català de la Salut) ; Dopico, Eva (Laboratori Clínic de l'Hospitalet. Hospitalet de Llobregat) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Sulleiro Igual, Elena (Hospital Universitari Vall d'Hebron) ; Gascon, Joaquim (Barcelona Institute for Global Health (ISGlobal)) ; Jané i Checa, Mireia (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ; Universitat Autònoma de Barcelona
Background: Chagas disease is endemic in Latin America and affects 8 million people worldwide. In 2010, Catalonia introduced systematic public health surveillance to detect and treat congenital Chagas disease. [...]
2019 - 10.2807/1560-7917.ES.2019.24.26.19-00011
Eurosurveillance, Vol. 24 Núm. 26 (2019) , p. 1900011  
16.
10 p, 824.6 KB First universal newborn screening program for severe combined immunodeficiency in europe. Two-years' experience in catalonia (Spain) / Argudo-Ramírez, Ana (Hospital Clínic i Provincial de Barcelona) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron) ; Marín-Soria, Jose L. (Hospital Clínic i Provincial de Barcelona) ; López-Galera, Rosa M. (Hospital Clínic i Provincial de Barcelona) ; Pajares-García, Sonia (Hospital Clínic i Provincial de Barcelona) ; González de Aledo-Castillo, Jose M. (Hospital Clínic i Provincial de Barcelona) ; Martínez Gallo, Mónica (Hospital Universitari Vall d'Hebron) ; Garcia-Prat, Marina (Hospital Universitari Vall d'Hebron) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ; Rivière, Jacques G.. (Hospital Universitari Vall d'Hebron) ; Quintero, Yania (Hospital Clínic i Provincial de Barcelona) ; Collado, Tatiana (Hospital Clínic i Provincial de Barcelona) ; García-Villoria, Judit (Hospital Clínic i Provincial de Barcelona) ; Ribes i Rubió, Antònia (Hospital Clínic i Provincial de Barcelona) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
Severe combined immunodeficiency (SCID), the most severe form of T-cell immunodeficiency, can be screened at birth by quantifying T-cell receptor excision circles (TRECs) in dried blood spot (DBS) samples. [...]
2019 - 10.3389/fimmu.2019.02406
Frontiers in immunology, Vol. 10 Núm. OCT (2019) , p. 2406  
17.
0 p, 658.9 KB Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing : Expected and Unexpected Findings / Rudilla, Francesc (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Franco-Jarava, Clara (Jeffrey Model Foundation Excellence Center) ; Martínez Gallo, Mónica (Jeffrey Model Foundation Excellence Center) ; Garcia-Prat, Marina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Rivière, Jacques (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Aguiló-Cucurull, Aina (Jeffrey Model Foundation Excellence Center) ; Mongay, Laura (Banc de Sang i Teixits) ; Vidal, Francisco (Instituto de Salud Carlos III) ; Solanich, Xavier (Hospital Universitari de Bellvitge) ; Irastorza, Iñaki (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Santos-Pérez, Juan Luis (Hospital Universitario Virgen de las Nieves (Granada)) ; Tercedor Sánchez, Jesús (Hospital Universitario Virgen de las Nieves (Granada)) ; Cusco, Ivon (Hospital Universitari Vall d'Hebron) ; Serra, Clara (Hospital Universitari Vall d'Hebron) ; Baz-Redón, Noelia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Fernández Cancio, Mónica (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Carreras, Carmen (Hospital Universitari i Politècnic La Fe (València)) ; Vagace, Manuel (Complejo Hospitalario Universitario de Badajoz) ; García-Patos Briones, Vicente (Hospital Universitari Vall d'Hebron) ; Pujol-Borrell, Ricardo (Jeffrey Model Foundation Excellence Center) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
Primary immunodeficiencies (PIDs) refer to a clinically, immunologically, and genetically heterogeneous group of over 350 disorders affecting development or function of the immune system. The increasing use of next-generation sequencing (NGS) technology has greatly facilitated identification of genetic defects in PID patients in daily clinical practice. [...]
2019 - 10.3389/fimmu.2019.02325
Frontiers in immunology, Vol. 10 (january 2019) , p. 2325  
18.
12 p, 3.3 MB Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes / García Arias-Salgado, Elena (Advanced Medical Projects) ; Gálvez, Eva (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Planas-Cerezales, Lurdes (Institut d'Investigació Biomèdica de Bellvitge) ; Pintado-Berninches, Laura (Advanced Medical Projects) ; Vallespín, Elena (Hospital Universitario La Paz (Madrid)) ; Martínez, Pilar (Hospital Universitario La Paz (Madrid)) ; Carrillo García, Jaime (Instituto de Investigaciones Biomédicas "Alberto Sols") ; Iarriccio, Laura (Advanced Medical Projects) ; Ruiz-Llobet, Anna (Institut de Recerca Sant Joan de Déu) ; Català, Albert (Institut de Recerca Sant Joan de Déu) ; Badell Serra, Isabel (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública) ; Gonzalez-Granado, Luis Ignacio (Hospital Universitario 12 de Octubre (Madrid)) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martínez Gallo, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Galera, Ana (Hospital Universitario Virgen de la Arrixaca (Múrcia)) ; Rodríguez-Vigil, Carmen (Hospital Universitario Miguel Servet (Saragossa)) ; Bastos, Mariana (Hospital General Universitario Gregorio Marañón. Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM)) ; Pérez de Nanclares, Guiomar (Instituto de Investigación Sanitaria Bioaraba (Vitoria, País Basc)) ; Leiro-Fernández, Virginia (Instituto de Investigación Biomédica de Vigo) ; Uria Oficialdegui, Maria Luz (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Díaz de Heredia, Cristina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Valenzuela, Claudia (Hospital Universitario de la Princesa (Madrid)) ; Martín, Sara (Institut d'Investigació Biomèdica de Bellvitge) ; López-Muñiz, Belén (Hospital Universitario Infanta Leonor) ; Lapunzina, Pablo (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Sevilla, Julián (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Molina Molina, Maria (Centro de Investigación Biomédica en Red de Enfermedades Respiratorias) ; Perona, Rosario (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Sastre, Leandro (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Background: Telomeres are nucleoprotein structures present at the terminal region of the chromosomes. Mutations in genes coding for proteins involved in telomere maintenance are causative of a number of disorders known as telomeropathies. [...]
2019 - 10.1186/s13023-019-1046-0
Orphanet Journal of Rare Diseases, Vol. 14 Núm. 1 (17 2019) , p. 82  

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