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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, Jose 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)
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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 (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)
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0 p, 691.1 KB |
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity
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Haimel, Matthias (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ;
Pazmandi, Julia (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ;
Heredia, Raú Jiménez (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ;
Dmytrus, Jasmin (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ;
Bal, Sevgi Köstel (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ;
Zoghi, Samaneh (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ;
van Daele, Paul (Erasmus University Medical Center (Rotterdam)) ;
Briggs, Tracy A. (University of Manchester) ;
Wouters, Carine (University Hospitals Leuven (Bèlgica)) ;
Bader-Meunier, Brigitte (Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE) (Paris)) ;
Aeschlimann, Florence A. (Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE),(Paris)) ;
Caorsi, Roberta (IRCCS Istituto Giannina Gaslini, Genova) ;
Eleftheriou, Despina (Hospital for Children NHS Foundation Trust (London)) ;
Hoppenreijs, Esther (Radboud University Medical Centre (Nijmegen)) ;
Salzer, Elisabeth (Medical University of Vienna) ;
Bakhtiar, Shahrzad (Goethe University) ;
Derfalvi, Beata (Dalhousie University/IWK Health Centre Halifax) ;
Saettini, Francesco (University of Milano Bicocca) ;
Kusters, Maaike A. A. (Hospital for Children NHS Foundation Trust) ;
Elfeky, Reem (Hospital for Children NHS Foundation Trust (London)) ;
Trück, Johannes (University Children's Hospital Zurich) ;
Rivière, Jacques G.. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
van der Burg, Mirjam (Leiden University Medical Center) ;
Gattorno, Marco (IRCCS Istituto Giannina Gaslini (Genova)) ;
Seidel, Markus G. (Medical University Graz) ;
Burns, Siobhan (Royal Free Hospital NHS Foundation Trust) ;
Warnatz, Klaus (University of Freiburg) ;
Hauck, Fabian (Ludwig-Maximilians-Universität München (Munich)) ;
Brogan, Paul (Hospital for Children NHS Foundation Trust (London)) ;
Gilmour, Kimberly C. (Hospital for Children NHS Foundation Trust (London)) ;
Schuetz, Catharina (Technische Universität Dresden) ;
Simon, Anna (Radboud University Nijmegen Medical Centre) ;
Bock, Christoph (Medical University of Vienna) ;
Hambleton, Sophie (Newcastle University) ;
de Vries, Esther (Elisabeth-Tweesteden Hospital (Tilburg)) ;
Robinson, Peter N. (The Jackson Laboratory for Genomic Medicine (Farmington)) ;
van Gijn, Marielle (University Medical Center Groningen) ;
Boztug, Kaan (Medical University of Vienna) ;
Universitat Autònoma de Barcelona
Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, provides a rich collection of vocabulary with standardized phenotypic descriptions in a hierarchical structure. [...]
2021 - 10.1016/j.jaci.2021.04.033
The Journal of Allergy and Clinical Immunology, Vol. 149 (may 2021) , p. 369-378
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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) ;
Jordán García, 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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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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1.2 MB |
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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Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia : Implications for Genetic Counseling
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Rivière, Jacques G.. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Franco-Jarava, Clara (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Martínez Gallo, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Aguiló-Cucurull, Aina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Blasco-Pérez, Laura (Hospital Universitari Vall d'Hebron) ;
Paramonov, Ida (Hospital Universitari Vall d'Hebron) ;
Antolín, María (Hospital Universitari Vall d'Hebron) ;
Martín-Nalda, Andrea (Jeffrey Model Foundation Excellence Center) ;
Soler-Palacín, Pere (Jeffrey Model Foundation Excellence Center) ;
Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ;
Universitat Autònoma de Barcelona
X-linked agammaglobulinemia (XLA) is a clinically and genetically well-defined immunodeficiency and the most common form of agammaglobulinemia. It is characterized by susceptibility to recurrent bacterial infections, profound hypogammaglobulinemia, and few or no circulating B cells. [...]
2020 - 10.3389/fimmu.2020.00046
Frontiers in immunology, Vol. 11 (february 2020)
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9 p, 1.2 MB |
Newborn Screening for SCID. Experience in Spain (Catalonia)
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Argudo-Ramírez, Ana (Hospital Clínic i Provincial de Barcelona) ;
Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron) ;
González de Aledo-Castillo, Jose Manuel (Hospital Clínic i Provincial de Barcelona) ;
López-Galera, Rosa (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Marín-Soria, Jose Luis (Hospital Clínic i Provincial de Barcelona) ;
Pajares-García, Sonia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Martínez Gallo, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Garcia-Prat, Marina (Hospital Universitari Vall d'Hebron) ;
Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Rivière, Jacques G.. (Hospital Universitari Vall d'Hebron) ;
Quintero, Yania (Hospital Clínic i Provincial de Barcelona) ;
Collado, Tatiana (Hospital Clínic i Provincial de Barcelona) ;
Ribes i Rubió, Antònia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
García-Villoria, Judit (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ;
Universitat Autònoma de Barcelona
Newborn screening (NBS) for severe combined immunodeficiency (SCID) started in Catalonia in January-2017, being the first Spanish and European region to universally include this testing. In Spain, a pilot study with 5000 samples was carried out in Seville in 2014; also, a research project with about 35,000 newborns will be carried out in 2021-2022 in the NBS laboratory of Eastern Andalusia. [...]
2021 - 10.3390/ijns7030046
International Journal of Neonatal Screening, Vol. 7 (july 2021)
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Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction
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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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