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10 p, 1.4 MB |
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies
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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 D. ;
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)
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25 p, 2.4 MB |
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
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Matuozzo, Daniela (University Paris Cité) ;
Talouarn, Estelle (University Paris Cité) ;
Marchal, Astrid (University Paris Cité) ;
Zhang, Peng (The 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) ;
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 T. (Karolinska Institute) ;
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 Institute) ;
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 Institute) ;
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 Institute) ;
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) ;
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 D. (Laboratory of Host Defenses) ;
Boisson-Dupuis, Stephanie (The Rockefeller University) ;
Su, Helen C. (NIAID) ;
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)
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12 p, 844.6 KB |
Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C) : A multicenter, retrospective study
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Davalos, Veronica (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
García-Prieto, Carlos A (Barcelona Supercomputing Center) ;
Ferrer, Gerardo (Centro de Investigación Biomédica en Red de Cáncer) ;
Aguilera-Albesa, Sergio (Complejo Hospitalario de Navarra) ;
Valencia-Ramos, Juan (Hospital Universitario de Burgos) ;
Rodríguez-Palmero, Agustí (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Ruiz, Montserrat (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Planas-Serra, Laura (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Jordan, Iolanda (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Alegría, Iosune (Complejo Hospitalario de Navarra) ;
Flores-Pérez, Patricia (Pediatrics Department. Hospital Universitario Niño Jesús) ;
Cantarín, Verónica (Pediatrics Department. Hospital Universitario Niño Jesús) ;
Fumadó, Victoria (Unitat de Malalties Infeccioses i Importades. Servei de Pediatría. Infectious and Imported Diseases. Pediatric Unit. Hospital Universitari Sant Joan de Deú) ;
Viadero, Maria Teresa (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Rodrigo, Carlos (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Méndez-Hernández, Maria (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
López-Granados, Eduardo (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Rivière, Jacques G.. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Pujol, Aurora 1968- (Institució Catalana de Recerca i Estudis Avançats) ;
Esteller, M (Universitat de Barcelona. Departament de Ciències Fisiològiques) ;
Universitat Autònoma de Barcelona.
Departament de Pediatria, d'Obstetrícia i Ginecologia i de Medicina Preventiva
Background: Most children and adolescents infected with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) remain asymptomatic or develop a mild coronavirus disease 2019 (COVID-19) that usually does not require medical intervention. [...]
2022 - 10.1016/j.eclinm.2022.101515
EClinicalMedicine, Vol. 50 (august 2022) , art. 101515
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10 p, 1.8 MB |
Epigenome-wide association study of COVID-19 severity with respiratory failure
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Castro de Moura, Manuel (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Davalos, Veronica (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Planas-Serra, Laura (Institut d'Investigació Biomèdica de Bellvitge) ;
Álvarez-Errico, Damiana (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Arribas, Carles (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Ruiz, Montserrat (Institut d'Investigació Biomèdica de Bellvitge) ;
Aguilera-Albesa, Sergio (Complejo Hospitalario de Navarra) ;
Troya, Jesús (Hospital Universitario Infanta Leonor) ;
Valencia Ramos, Juan (Hospital Universitario de Burgos) ;
Vélez Santamaria, Valentina (Hospital Universitari de Bellvitge) ;
Rodríguez-Palmero, Agustí (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Villar Garcia, Judit (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Horcajada, Juan Pablo (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Albu, Sergiu (Institut Guttmann Foundation. Badalona) ;
Casasnovas, Carlos (Hospital Universitari de Bellvitge) ;
Rull, Anna (Hospital Universitari Joan XXIII de Tarragona) ;
Reverté, Laia (Hospital Universitari Joan XXIII de Tarragona) ;
Dietl, Beatriz (Servei de malalties infeccioses Hospital Universitari MutuaTerrassa. Universitat de Barcelona) ;
Dalmau, David (Universitat de Barcelona. Hospital Mútua de Terrassa) ;
Arranz, María Jesús (Fundació Docència i Recerca Mutua Terrassa i Hospital Universitari Mutua Terrassa) ;
Llucià-Carol, Laia (Stroke Pharmacogenomics and Genetics Group. Sant Pau Institute of Research. Sant Pau Hospital) ;
Planas, Anna Maria (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Pérez-Tur, Jordi (Institut de Biomedicina de València-CSIC. CIBERNED. Unitat Mixta de Neurologia i Genètica) ;
Fernandez-Cadenas, Israel (Stroke Pharmacogenomics and Genetics Group. Sant Pau Institute of Research. Sant Pau Hospital) ;
Villares, Paula (Hospital Universitario HM Sanchinarro (Madrid)) ;
Tenorio, Jair (Center for Biomedical Research on Rare Diseases (CIBERER). ISCIII) ;
Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ;
Vidal, Francesc (Hospital Universitari Joan XXIII de Tarragona) ;
Pujol, Aurora 1968- (Institució Catalana de Recerca i Estudis Avançats) ;
Esteller, M (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Background: Patients infected with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), responsible for the coronavirus disease 2019 (COVID-19), exhibit a wide spectrum of disease behaviour. [...]
2021 - 10.1016/j.ebiom.2021.103339
EBioMedicine, Vol. 66 (april 2021) , p. 103339
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4 p, 1.9 MB |
Coordinated response to imported vaccine-derived poliovirus infection, Barcelona, Spain, 2019-2020
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Álamo-Junquera, Dolores (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Politi, Julieta (Parc de Salut Mar) ;
Simón, Pere (Institut d'Investigació Biomèdica Sant Pau) ;
Dieli-Crimi, Romina (Hospital Universitari Vall d'Hebron) ;
Borrell, Ricardo Pujol (Hospital Universitari Vall d'Hebron) ;
Colobrán Oriol, Roger (Universitat Autònoma de Barcelona) ;
Martínez-Gallo, M. (Universitat Autònoma de Barcelona) ;
Campins Martí, Magda (Universitat Autònoma de Barcelona) ;
Antón, Andrés (Universitat Autònoma de Barcelona) ;
Esperalba, Juliana (Universitat Autònoma de Barcelona) ;
Andrés, Cristina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Codina, María Gema (Universitat Autònoma de Barcelona) ;
Polverino, E. (Hospital Universitari Vall d'Hebron) ;
Rosa Narciso, M. (Institut Català de la Salut) ;
Molinero, Emilia (Institut d'Investigació Biomèdica Sant Pau) ;
Rius i Gibert, Maria Cristina (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
In 2019, the Public Health Agency of Barcelona, Spain, was notifi ed of a vaccine-derived poliovirus infection. The patient had an underlying common variable immunodefi ciency and no signs of acute fl accid paralysis. [...]
2021 - 10.3201/eid2705.204675
Emerging Infectious Diseases, Vol. 27 Núm. 5 (may 2021) , p. 1513-1516
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11 p, 3.7 MB |
Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome : Diagnostic implications
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Batlle-Masó, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Garcia-Prat, Marina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Parra-Martínez, Alba (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Franco-Jarava, Clara (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Aguiló-Cucurull, Aina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Velasco, Pablo (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Antolín, María (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Rivière, Jacques G.. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Martínez Gallo, Mónica (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ;
Colobrán Oriol, Roger (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
Autoimmune lymphoproliferative syndrome (ALPS) is a rare primary immune disorder characterized by impaired apoptotic homeostasis. The clinical characteristics include lymphoproliferation, autoimmunity (mainly cytopenia), and an increased risk of lymphoma. [...]
2022 - 10.3389/fimmu.2022.1014984
Frontiers in immunology, Vol. 13 (november 2022)
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12 p, 2.0 MB |
Genome-wide detection of human variants that disrupt intronic branchpoints
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Zhang, Peng (The Rockefeller University) ;
Philippot, Quentin (Paris Cité University) ;
Ren, Weicheng (Karolinska Institutet (Estocolm, Suècia)) ;
Lei, Wei-Te (The Rockefeller University) ;
Li, Juan (The Rockefeller University) ;
Stenson, Peter D. (Cardiff University) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ;
Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ;
Boisson, Bertrand (Paris Cité University) ;
Zhang, Shen-Ying (Paris Cité University) ;
Puel, Anne (Paris Cité University) ;
Pan-Hammarström, Qiang (Karolinska Institutet (Estocolm, Suècia)) ;
Zhang, Qian (Paris Cité University) ;
Cooper, David N. (Cardiff University) ;
Abel, Laurent (Paris Cité University, Imagine Institute) ;
Casanova, Jean-Laurent (HHMI) ;
Universitat Autònoma de Barcelona
The search for candidate variants underlying human disease in massive parallel sequencing data typically focuses on coding regions and essential splice sites, mostly ignoring noncoding variants. The RNA spliceosome recognizes intronic branchpoint (BP) motifs at the beginning of splicing and operates mostly within introns to define the exon-intron boundaries; however, BP variants have been paid little attention. [...]
2022 - 10.1073/pnas.2211194119
Proceedings of the National Academy of Sciences of the United States of America, Vol. 119 (october 2022)
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9 p, 1.0 MB |
Case Report : Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome
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Boluda-Navarro, Mireia (Instituto de Investigación Sanitaria La Fe) ;
Ibáñez, Mariam (Universidad CEU Cardenal Herrera) ;
Liquori, Alessandro (Instituto de Investigación Sanitaria La Fe) ;
Franco-Jarava, Clara (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ;
Martínez Gallo, Mónica (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ;
Rodríguez-Vega, Héctor (Hospital Universitari i Politècnic La Fe (València)) ;
Teresa, Jaijo (Hospital Universitari i Politècnic La Fe (València)) ;
Carreras, Carmen (Hospital Universitari i Politècnic La Fe (València)) ;
Such, Esperanza (Centro de Investigación Biomédica en Red de Cáncer) ;
Zúñiga, Ángel (Hospital Universitari i Politècnic La Fe (València)) ;
Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Cervera, José (Hospital Universitari i Politècnic La Fe (València))
Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. [...]
2021 - 10.3389/fimmu.2021.625591
Frontiers in immunology, Vol. 12 (March 2021) , art. 625591
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LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy
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Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Garcia-Prat, Marina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Franco-Jarava, Clara (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Rivière, Jacques G.. (Jeffrey Modell Foundation Excellence Center) ;
Plaja Rustein, Alberto (Hospital Universitari Vall d'Hebron) ;
Bezdan, Daniela (Universitat Pompeu Fabra) ;
Bosio, Mattia (Universitat Pompeu Fabra) ;
Martínez Gallo, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Ossowski, Stephan (Institute of Medical Genetics and Applied Genomics, University of Tübingen) ;
Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ;
Universitat Autònoma de Barcelona
LRBA deficiency was first described in 2012 as an autosomal recessive disorder caused by biallelic mutations in the LRBA gene (OMIM #614700). It was initially characterized as producing early-onset hypogammaglobulinemia, autoimmune manifestations, susceptibility to inflammatory bowel disease, and recurrent infection. [...]
2018 - 10.3389/fimmu.2018.02397
Frontiers in immunology, Vol. 9 (october 2018)
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Evaluating the Genetics of Common Variable Immunodeficiency : Monogenetic Model and Beyond
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de Valles-Ibáñez, Guillem (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Esteve-Solé, Ana (Hospital Clínic i Provincial de Barcelona) ;
Piquer, Mònica (Hospital Clínic i Provincial de Barcelona) ;
González-Navarro, E. Azucena (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Hernandez-Rodriguez, Jessica (Universitat Pompeu Fabra) ;
Laayouni, Hafid (Universitat Pompeu Fabra) ;
González-Roca, Eva (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Plaza-Martin, Ana María (Hospital Clínic i Provincial de Barcelona) ;
Deyà-Martínez, Ángela (Hospital Clínic i Provincial de Barcelona) ;
Martín-Nalda, Andrea (Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies) ;
Martínez Gallo, Mónica (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ;
Garcia-Prat, Marina (Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies) ;
del Pino-Molina, Lucía (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Cusco, Ivon (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Codina Solà, Marta (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Batlle-Masó, Laura (Universitat Pompeu Fabra) ;
Solís-Moruno, Manuel (Universitat Pompeu Fabra) ;
Marquès-Bonet, Tomàs (Barcelona Institute of Science and Technology (BIST)) ;
Bosch, Elena (Universitat Pompeu Fabra) ;
López-Granados, Eduardo (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Aróstegui, Juan Ignacio (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Soler-Palacín, Pere (Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies) ;
Colobrán Oriol, Roger (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ;
Yagüe, Jordi (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Alsina Manrique, Laia (Hospital Clínic i Provincial de Barcelona) ;
Juan, Manel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Casals, Ferran (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut)
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor response to vaccines. Its diagnosis is made based on clinical and immunological criteria, after exclusion of other diseases that can cause similar phenotypes. [...]
2018 - 10.3389/fimmu.2018.00636
Frontiers in immunology, Vol. 9 (may 2018)
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