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Artículos Encontrados 4 registros  
1.
10 p, 1.4 MB The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies / Manry, Jérémy ; Bastard, Paul ; Gervais, Adrian ; Le Voyer, Tom ; Rosain, Jérémie ; Philippot, Quentin ; Michailidis, Eleftherios ; Hoffmann, Hans-Heinrich ; Eto, Shohei ; Garcia-Prat, Marina (Hospital Universitari Vall d'Hebron) ; Bizien, Lucy ; Parra-Martínez, Alba (Hospital Universitari Vall d'Hebron) ; Yang, Rui ; Haljasmägi, Liis ; Migaud, Mélanie ; Särekannu, Karita ; Maslovskaja, Julia ; de Prost, Nicolas ; Tandjaoui-Lambiotte, Yacine ; Luyt, Charles-Edouard ; Amador-Borrero, Blanca ; Gaudet, Alexandre ; Poissy, Julien ; Morel, Pascal ; Richard, Pascale ; Cognasse, Fabrice ; Troya, Jesús ; Trouillet-Assant, Sophie ; Belot, Alexandre ; Saker, Kahina ; Garçon, Pierre ; Rivière, Jacques G.. (Hospital Universitari Vall d'Hebron) ; Lagier, Jean-Christophe ; Gentile, Stéphanie ; Rosen, Lindsey B. ; Shaw, Elana ; Morio, Tomohiro ; Tanaka, Junko ; Dalmau, David ; Tharaux, Pierre-Louis ; Sene, Damien ; Stepanian, Alain ; Mégarbane, Bruno ; Triantafyllia, Vasiliki ; Fekkar, Arnaud ; Heath, James R. ; Franco, José Luis ; Anaya, Juan-Manuel ; Solé-Violán, Jordi ; Imberti, Luisa ; Biondi, Andrea ; Bonfanti, Paolo ; Castagnoli, Riccardo ; Delmonte, Ottavia M. ; Zhang, Yu ; Snow, Andrew ; Holland, Steven M. ; Biggs, Catherine M. ; Moncada-Vélez, Marcela ; Arias, Andrés Augusto ; Lorenzo, Lazaro ; Boucherit, Soraya ; Anglicheau, Dany ; Planas, Anna Maria ; Haerynck, Filomeen ; Duvlis, Sotirija ; Ozcelik, Tayfun ; Keles, Sevgi ; Bousfiha, Ahmed A. ; El Bakkouri, Jalila ; Ramirez-Santana, Carolina ; Paul, Stephane ; Pan-Hammarström, Qiang ; Hammarström, Lennart ; Dupont, Annabelle ; Kurolap, Alina ; Metz, Christine N. ; Aiuti, Alessandro ; Casari, Giorgio ; Lampasona, Vito ; Ciceri, Fabio ; Barreiros, Lucila A. ; Domínguez-Garrido, Elena ; Vidigal, Mateus ; Zatz, Mayana ; van de Beek, Diederik ; Sahanic, Sabina ; Tancevski, Ivan ; Stepanovskyy, Yurii ; Boyarchuk, Oksana ; Nukui, Yoko ; Tsumura, Miyuki ; Vidaur, Loreto ; Tangye, Stuart G. ; Burrel, Sonia ; Duffy, Darragh ; Quintana-Murci, Lluis ; Klocperk, Adam ; Kann, Nelli Y. ; Shcherbina, Anna ; Lau, Yu-Lung ; Leung, Daniel ; Coulongeat, Matthieu ; Marlet, Julien ; Koning, Rutger ; Reyes, Luis Felipe ; Chauvineau-Grenier, Angélique ; Venet, Fabienne ; Monneret, Guillaume ; Nussenzweig, Michel C. ; Arrestier, Romain ; Boudhabhay, Idris ; Baris-Feldman, Hagit ; Hagin, David ; Wauters, Joost ; Meyts, Isabelle ; Dyer, Adam H. ; Kennelly, Sean P. ; Bourke, Nollaig M. ; Halwani, Rabih ; Sharif-Askari, Fatemeh Saheb ; Dorgham, Karim ; Sallette, Jérôme ; Sedkaoui, Souad Mehlal ; AlKhater, Suzan ; Rigo Bonnin, Raül (Institut d'Investigació Biomèdica de Bellvitge) ; Morandeira, Francisco ; Roussel, Lucie ; Vinh, Donald C. ; Erikstrup, Christian ; Condino-Neto, Antonio ; Prando, Carolina ; Bondarenko, Anastasiia ; Spaan, András N. ; Gilardin, Laurent ; Fellay, Jacques ; Lyonnet, Stanislas ; Bilguvar, Kaya ; Lifton, Richard P. ; Mane, Shrikant ; Anderson, Mark S. ; Boisson, Bertrand ; Béziat, Vivien ; Zhang, Shen-Ying ; Andreakos, Evangelos ; Hermine, Olivier ; Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ; Peterson, Pärt ; Mogensen, Trine H. ; Rowen, Lee ; Mond, James ; Debette, Stéphanie ; De Lamballerie, Xavier ; Burdet, Charles ; Bouadma, Lila ; Zins, Marie ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ; Gorochov, Guy ; Solanich, Xavier (Institut d'Investigació Biomèdica de Bellvitge) ; Susen, Sophie ; Martínez Picado, Francisco Javier (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Raoult, Didier ; Vasse, Marc ; Gregersen, Peter K. ; Piemonti, Lorenzo ; Rodríguez-Gallego, Carlos ; Notarangelo, Luigi ; Su, Helen C. ; Kisand, Kai ; Okada, Satoshi ; Puel, Anne ; Jouanguy, Emmanuelle ; Rice, Charles M. ; Tiberghien, Pierre ; Zhang, Qian ; Casanova, Jean-Laurent ; Abel, Laurent ; Cobat, Aurélie ; Universitat Autònoma de Barcelona
There is growing evidence that preexisting autoantibodies neutralizing type I interferons (IFNs) are strong determinants of life-threatening COVID-19 pneumonia. It is important to estimate their quantitative impact on COVID-19 mortality upon SARS-CoV-2 infection, by age and sex, as both the prevalence of these autoantibodies and the risk of COVID-19 death increase with age and are higher in men. [...]
2022 - 10.1073/pnas.2200413119
Proceedings of the National Academy of Sciences of the United States of America, Vol. 119 (may 2022)  
2.
25 p, 2.4 MB Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 / Matuozzo, Daniela (University Paris Cité) ; Talouarn, Estelle (University Paris Cité) ; Marchal, Astrid (University Paris Cité) ; Zhang, Peng (Rockefeller University) ; Manry, Jeremy (University Paris Cité) ; Seeleuthner, Yoann (University Paris Cité) ; Zhang, Yu (Laboratory of Clinical Immunology and Microbiology) ; Bolze, Alexandre (Helix) ; Chaldebas, Matthieu (The Rockefeller University) ; Milisavljevic, Baptiste (The Rockefeller University) ; Gervais, Adrian (University Paris Cité) ; Bastard, Paul (Necker Hospital for Sick Children) ; Asano, Takaki (The Rockefeller University) ; Bizien, Lucy (University Paris Cité) ; Barzaghi, Federica (IRCCS San Raffaele Scientific Institute (Milà, Itàlia)) ; Abolhassani, Hassan (Children's Medical Center) ; Abou Tayoun, Ahmad (Mohammed Bin Rashid University of Medicine and Health Sciences) ; Aiuti, Alessandro (Vita-Salute San Raffaele University) ; Alavi Darazam, Ilad (Loghman Hakim Hospital) ; Allende, Luis M. (Hospital 12 de Octubre (Madrid)) ; Alonso-Arias, Rebeca (Hospital Universitario Central de Asturias) ; Arias, Andrés Augusto (University of Antioquia UdeA) ; Aytekin, Gokhan (Konya City Hospital) ; Bergman, Peter (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Bondesan, Simone (IRCSS San Raffaele Scientific Institute) ; Bryceson, Yenan (Karolinska Institutet (Estocolm, Suècia)) ; Bustos, Ingrid G. (Universidad de La Sabana) ; Cabrera-Marante, Oscar (Hospital Universitario La Paz (Madrid)) ; Carcel, Sheila (Instituto Maimónides de Investigación Biomédica de Córdoba) ; Carrera, Paola (IRCSS San Raffaele Scientific Institute) ; Casari, Giorgio (Vita-Salute San Raffaele University) ; Chaïbi, Khalil (Sorbonne University) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Condino-Neto, Antonio (University of São Paulo) ; Covill, Laura E. (Karolinska Institutet (Estocolm, Suècia)) ; Delmonte, Ottavia M. (Laboratory of Clinical Immunology and Microbiology) ; El Zein, Loubna (Lebanese University) ; Flores, Carlos (Universidad Fernando Pessoa Canarias) ; Gregersen, Peter K. (Feinstein Institute for Medical Research) ; Gut, Marta (Institut de Ciència i Tecnologia de Barcelona. Institut de Recerca en Biomedicina) ; Haerynck, Filomeen (Jeffrey Modell Diagnosis and Research Centre) ; Halwani, Rabih (University of Sharjah) ; Hancerli, Selda (Istanbul University) ; Hammarström, Lennart (Karolinska Institutet (Estocolm, Suècia)) ; Hatipoğlu, Nevin (University of Health Sciences, Turkey) ; Karbuz, Adem (Dr. Cemil Tascioglu City Hospital, Turkey) ; Keles, Sevgi (Necmettin Erbakan University) ; Kyheng, Christèle (Hôpital Bicêtre) ; Leon-Lopez, Rafael (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ; Franco, Jose Luis (University of Antioquia UDEA) ; Mansouri, Davood (Shahid Beheshti University of Medical Sciences) ; Martínez Picado, Francisco Javier (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Metin Akcan, Ozge (Necmettin Erbakan University) ; Migeotte, Isabelle (Centre de Génétique Humaine de L'Université Libre de Bruxelles) ; Morange, Pierre-Emmanuel (Aix-Marseille University) ; Morelle, Guillaume (Hôpital Bicêtre) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Novelli, Giuseppe (IRCCS Neuromed) ; Novelli, Antonio (Bambino Gesù Children Hospital) ; Ozcelik, Tayfun (Bilkent University) ; Palabiyik, Figen (University of Health Sciences, Turkey) ; Pan-Hammarström, Qiang (Karolinska Institutet (Estocolm, Suècia)) ; de Diego, Rebeca Pérez (Hospital Universitario La Paz (Madrid)) ; Planas-Serra, Laura (Institut d'Investigació Biomèdica de Bellvitge) ; Pleguezuelo, Daniel E. (Hospital 12 de Octubre (Madrid)) ; Prando, Carolina (Instituto de Pesquisa Pelé Pequeno Príncipe) ; Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ; Reyes, Luis Felipe (Universidad de La Sabana) ; Rivière, Jacques G. (Hospital Universitari Vall d'Hebron) ; Rodriguez-Gallego, Carlos (Universidad Fernando Pessoa Canarias) ; Rojas, Julian (University of Antioquia UDEA) ; Rovere-Querini, Patrizia (IRCCS San Raffaele Scientific Institute (Milà, Itàlia)) ; Schlüter, Agatha (Institut d'Investigació Biomèdica de Bellvitge) ; Shahrooei, Mohammad (KU Leuven.) ; Sobh, Ali (Mansoura University Children's Hospital) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ; Tandjaoui-Lambiotte, Yacine (Avicenne Hospital) ; Tipu, Imran (University of Management and Technology) ; Tresoldi, Cristina (IRCCS Ospedale San Raffaele) ; Troya, Jesus (Hospital Universitario Infanta Leonor) ; van de Beek, Diederik (Amsterdam Neuroscience) ; Zatz, Mayana (University of São Paulo) ; Zawadzki, Pawel (Adam Mickiewicz University) ; Al-Muhsen, Saleh Zaid (King Saud University) ; Alosaimi, Mohammed Faraj (King Saud University) ; Alsohime, Fahad M. (King Saud University) ; Baris-Feldman, Hagit (Tel Aviv University) ; Butte, Manish J. (University of California Los Angeles) ; Constantinescu, Stefan N. (Oxford University) ; Cooper, Megan A. (Washington University in St. Louis) ; Dalgard, Clifton L. (Uniformed Services University of the Health Sciences) ; Fellay, Jacques (Lausanne University Hospital) ; Heath, James R. (Institute for Systems Biology) ; Lau, Yu-Lung (Queen Mary Hospital) ; Lifton, Richard P. (Yale School of Medicine) ; Maniatis, Tom (New York Genome Center) ; Mogensen, Trine H. (Aarhus University Hospital (Aarhus, Dinamarca)) ; von Bernuth, Horst (Charité - Universitätsmedizin Berlin) ; Lermine, Alban (Laboratoire de Biologie Médicale Multisites Seqoia) ; Vidaud, Michel (Laboratoire de Biologie Médicale Multisites Seqoia) ; Boland, Anne (Université Paris-Saclay) ; Deleuze, Jean-François (Université Paris-Saclay) ; Nussbaum, Robert (Invitae) ; Kahn-Kirby, Amanda (Invitae) ; Mentre, France (Hôpital Bichat) ; Tubiana, Sarah (Hôpital Bichat) ; Gorochov, Guy (CIMI-Paris) ; Tubach, Florence (Institut Pierre Louis d'Epidémiologie et de Santé Publique) ; Hausfater, Pierre (Sorbonne Université) ; Meyts, Isabelle (KU Leuven) ; Zhang, Shen-Ying (The Rockefeller University) ; Puel, Anne (The Rockefeller University) ; Notarangelo, Luigi (Laboratory of Host Defenses) ; Boisson-Dupuis, Stephanie (The Rockefeller University) ; Su, Helen C. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Boisson, Bertrand (The Rockefeller University) ; Jouanguy, Emmanuelle (The Rockefeller University) ; Casanova, Jean-Laurent (Howard Hughes Medical Institute) ; Zhang, Qian (The Rockefeller University) ; Abel, Laurent (The Rockefeller University) ; Cobat, Aurélie (The Rockefeller University) ; Universitat Autònoma de Barcelona
We previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15-20% of cases of life-threatening COVID-19 in unvaccinated patients. [...]
2023 - 10.1186/s13073-023-01173-8
Genome Medicine, Vol. 15 (april 2023)  
3.
605.4 KB Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies / Dezfouli, Mahya (Kungl. Tekniska högskolan (Suècia)) ; Bergström, Sofia (Kungl. Tekniska högskolan (Suècia)) ; Skattum, Lillemor (Clinical Immunology and Transfusion Medicine, Region Skåne (Suècia)) ; Abolhassani, Hassan (Tehran University of Medical Sciences) ; Neiman, Maja (Kungl. Tekniska högskolan (Suècia)) ; Torabi-Rahvar, Monireh (Tehran University of Medical Sciences) ; Franco-Jarava, Clara (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Ferrer Balaguer, Juana M. (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ; Slade, Charlotte A. (The Walter and Eliza Hall Institute of Medical Research) ; Roos, Anja (Sint Antonius Hospital) ; López-Trascasa, Margarita (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Gonzalez-Granado, Luis I. (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Allende-Martinez, Luis M. (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Mizuno, Yumi (Fukuoka Children's Hospital) ; Yoshida, Yusuke (Department of Pediatrics, National Defense Medical College (Japó)) ; Friman, Vanda (Department of Infectious Diseases, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg) ; Lundgren, Åsa (Central Hospital (Suècia)) ; Aghamohammadi, Asghar (Tehran University of Medical Sciences) ; Rezaei, Nima (Tehran University of Medical Sciences) ; Hernández-Gonzalez, Manuel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; von Döbeln, Ulrika (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Truedsson, Lennart (Lund University) ; Hara, Toshiro (Fukuoka Children's Hospital) ; Nonoyama, Shigeaki (National Defense Medical College (Japó)) ; Schwenk, Jochen M. (Kungl. Tekniska högskolan (Suècia)) ; Nilsson, Peter (Kungl. Tekniska högskolan (Suècia)) ; Hammarström, Lennart (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Universitat Autònoma de Barcelona
The clinical outcomes of primary immunodeficiencies (PIDs) are greatly improved by accurate diagnosis early in life. However, it is not common to consider PIDs before the manifestation of severe clinical symptoms. [...]
2020 - 10.3389/fimmu.2020.00455
Frontiers in immunology, Vol. 11 (march 2020)  
4.
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  

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