Tocilizumab en niño con leucemia linfoblástica aguda y síndrome de liberación de citoquinas asociado a COVID-19

por Velasco Puyó, Pablo, Moreno, Lucas, Díaz de Heredia, Cristina, Rivière, Jacques G., Soler Palacín, Pere
Publicado 2020

Tocilizumab in a child with acute lymphoblastic leukaemia and COVID-19-related cytokine release syndrome()

por Velasco Puyó, Pablo, Moreno, Lucas, Díaz de Heredia, Cristina, Rivière, Jacques G., Soler Palacín, Pere
Publicado 2020

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis

por Viñas-Giménez, Laura, Padilla, Natàlia, Batlle-Masó, Laura, Casals, Ferran, Rivière, Jacques G., Martínez-Gallo, Mónica, de la Cruz, Xavier, Colobran, Roger
Publicado 2020

Influenza-Associated Disseminated Aspergillosis in a 9-Year-Old Girl Requiring ECMO Support

por Mendoza-Palomar, Natalia, Melendo-Pérez, Susana, Balcells, Joan, Izquierdo-Blasco, Jaume, Martín-Gómez, Maria Teresa, Velasco-Nuño, Monica, Rivière, Jacques G., Soler-Palacin, Pere
Publicado 2021

Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling

por Rivière, Jacques G., Franco-Jarava, Clara, Martínez-Gallo, Mónica, Aguiló-Cucurull, Aina, Blasco-Pérez, Laura, Paramonov, Ida, Antolín, María, Martín-Nalda, Andrea, Soler-Palacín, Pere, Colobran, Roger
Publicado 2020

Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report

por Franco-Jarava, Clara, Valenzuela, Irene, Riviere, Jacques G., Garcia-Prat, Marina, Martínez-Gallo, Mónica, Dieli-Crimi, Romina, Castells, Neus, Batlle-Masó, Laura, Soler-Palacin, Pere, Colobran, Roger
Publicado 2022

LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy

por Soler-Palacín, Pere, Garcia-Prat, Marina, Martín-Nalda, Andrea, Franco-Jarava, Clara, Rivière, Jacques G., Plaja, Alberto, Bezdan, Daniela, Bosio, Mattia, Martínez-Gallo, Mónica, Ossowski, Stephan, Colobran, Roger
Publicado 2018

Atypical Inflammatory Syndrome Triggered by SARS-CoV-2 in Infants with Down Syndrome

por Malle, Louise, Bastard, Paul, Martin-Nalda, Andrea, Carpenter, Taya, Bush, Douglas, Patel, Roosheel, Colobran, Roger, Soler-Palacin, Pere, Casanova, Jean-Laurent, Gans, Melissa, Rivière, Jacques G., Bogunovic, Dusan
Publicado 2021

Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications

por Batlle-Masó, Laura, Garcia-Prat, Marina, Parra-Martínez, Alba, Franco-Jarava, Clara, Aguiló-Cucurull, Aina, Velasco, Pablo, Antolín, María, Rivière, Jacques G., Martín-Nalda, Andrea, Soler-Palacín, Pere, Martínez-Gallo, Mónica, Colobran, Roger
Publicado 2022

Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening

por Martín-Nalda, Andrea, Rivière, Jacques G., Català-Besa, Mireia, García-Prat, Marina, Parra-Martínez, Alba, Martínez-Gallo, Mónica, Colobran, Roger, Argudo-Ramírez, Ana, Marín-Soria, Jose Luis, García-Villoria, Judit, Alonso, Laura, Arranz-Amo, Jose Antonio, la Marca, Giancarlo, Soler-Palacín, Pere
Publicado 2021

Newborn Screening for SCID. Experience in Spain (Catalonia)

por Argudo-Ramírez, Ana, Martín-Nalda, Andrea, González de Aledo-Castillo, Jose Manuel, López-Galera, Rosa, Marín-Soria, Jose Luis, Pajares-García, Sonia, Martínez-Gallo, Mónica, García-Prat, Marina, Colobran, Roger, Riviere, Jacques G., Quintero, Yania, Collado, Tatiana, Ribes, Antonia, García-Villoria, Judit, Soler-Palacín, Pere
Publicado 2021

First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)

por Argudo-Ramírez, Ana, Martín-Nalda, Andrea, Marín-Soria, Jose L., López-Galera, Rosa M., Pajares-García, Sonia, González de Aledo-Castillo, Jose M., Martínez-Gallo, Mónica, García-Prat, Marina, Colobran, Roger, Riviere, Jacques G., Quintero, Yania, Collado, Tatiana, García-Villoria, Judit, Ribes, Antonia, Soler-Palacín, Pere
Publicado 2019

Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis

por Chen, Jie, Jing, Huie, Martin-Nalda, Andrea, Bastard, Paul, Rivière, Jacques G., Liu, Zhiyong, Colobran, Roger, Lee, Danyel, Tung, Wesley, Manry, Jeremy, Hasek, Mary, Boucherit, Soraya, Lorenzo, Lazaro, Rozenberg, Flore, Aubart, Mélodie, Abel, Laurent, Su, Helen C., Soler Palacin, Pere, Casanova, Jean-Laurent, Zhang, Shen-Ying
Publicado 2021

Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study

por Davalos, Veronica, García-Prieto, Carlos A., Ferrer, Gerardo, Aguilera-Albesa, Sergio, Valencia-Ramos, Juan, Rodríguez-Palmero, Agustí, Ruiz, Montserrat, Planas-Serra, Laura, Jordan, Iolanda, Alegría, Iosune, Flores-Pérez, Patricia, Cantarín, Verónica, Fumadó, Victoria, Viadero, Maria Teresa, Rodrigo, Carlos, Méndez-Hernández, Maria, López-Granados, Eduardo, Colobran, Roger, Rivière, Jacques G., Soler-Palacín, Pere, Pujol, Aurora, Esteller, Manel
Publicado 2022

Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction

por Català-Moll, Francesc, Ferreté-Bonastre, Anna G, Li, Tianlu, Weichenhan, Dieter, Lutsik, Pavlo, Ciudad, Laura, Álvarez-Prado, Ángel F, Rodríguez-Ubreva, Javier, Klemann, Christian, Speckmann, Carsten, Vilas-Zornoza, Amaya, Abolhassani, Hassan, Martínez-Gallo, Mónica, Dieli-Crimi, Romina, Rivière, Jacques G, Martín-Nalda, Andrea, Colobran, Roger, Soler-Palacín, Pere, Kracker, Sven, Hammarström, Lennart, Prosper, Felipe, Durandy, Anne, Grimbacher, Bodo, Plass, Christoph, Ballestar, Esteban
Publicado 2021

Treatments for multi-system inflammatory syndrome in children — discharge, fever, and second-line therapies

por Tagarro, Alfredo, Domínguez-Rodríguez, Sara, Mesa, Juan Miguel, Epalza, Cristina, Grasa, Carlos, Iglesias-Bouzas, María Isabel, Fernández-Cooke, Elisa, Calvo, Cristina, Villaverde, Serena, Torres-Fernández, David, Méndez-Echevarria, Ana, Leoz, Inés, Fernández-Pascual, María, Saavedra-Lozano, Jesús, Soto, Beatriz, Aguilera-Alonso, David, Rivière, Jacques G., Fumadó, Victoria, Martínez-Campos, Leticia, Vivanco, Ana, Pilar-Orive, Francisco Javier, Alcalá, Pedro, Ruiz, Beatriz, López-Machín, Ana, Oltra, Manuel, Moraleda, Cinta
Publicado 2022

Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity

por Haimel, Matthias, Pazmandi, Julia, Heredia, Raú Jiménez, Dmytrus, Jasmin, Bal, Sevgi Köstel, Zoghi, Samaneh, van Daele, Paul, Briggs, Tracy A., Wouters, Carine, Bader-Meunier, Brigitte, Aeschlimann, Florence A., Caorsi, Roberta, Eleftheriou, Despina, Hoppenreijs, Esther, Salzer, Elisabeth, Bakhtiar, Shahrzad, Derfalvi, Beata, Saettini, Francesco, Kusters, Maaike A. A., Elfeky, Reem, Trück, Johannes, Rivière, Jacques G., van der Burg, Mirjam, Gattorno, Marco, Seidel, Markus G., Burns, Siobhan, Warnatz, Klaus, Hauck, Fabian, Brogan, Paul, Gilmour, Kimberly C., Schuetz, Catharina, Simon, Anna, Bock, Christoph, Hambleton, Sophie, de Vries, Esther, Robinson, Peter N., van Gijn, Marielle, Boztug, Kaan
Publicado 2022

Multisystem inflammatory syndrome in children and SARS-CoV-2 variants: a two-year ambispective multicentric cohort study in Catalonia, Spain

por Pino, Rosa, Antoñanzas, Jesús M., Paredes-Carmona, Fernando, Perramon, Aida, Rivière, Jacques G., Coma, Maria, Martínez-Mejías, Abel, Ripoll, Francesc, López, Núria, Conti, Romina, Sala-Castellví, Pere, Ruiz, Montserrat, Brio, Sonia, García-Lorenzo, Marc, Esteller, Maria, Carreras-Abad, Clara, Herrero-Hernando, Carlos, Schneider, Stephan Otto, Gatell, Anna, Aguilar, Isabel, Cantero, Javier, Ruiz, Gloria, Fenollosa, Teresa, Lobato, Zulema, Villalobos, Pilar, Mora, Emiliano, Anton, Jordi, Visa-Reñé, Núria, Soler-Palacin, Pere, Calavia, Olga, Esquirol-Herrero, Cristina, Guarch-Ibañez, Borja, García-García, Juan-José, Coma, Ermengol, Fina, Francesc, Prats, Clara, Soriano-Arandes, Antoni
Publicado 2023

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

por Matuozzo, Daniela, Talouarn, Estelle, Marchal, Astrid, Zhang, Peng, Manry, Jeremy, Seeleuthner, Yoann, Zhang, Yu, Bolze, Alexandre, Chaldebas, Matthieu, Milisavljevic, Baptiste, Gervais, Adrian, Bastard, Paul, Asano, Takaki, Bizien, Lucy, Barzaghi, Federica, Abolhassani, Hassan, Abou Tayoun, Ahmad, Aiuti, Alessandro, Alavi Darazam, Ilad, Allende, Luis M., Alonso-Arias, Rebeca, Arias, Andrés Augusto, Aytekin, Gokhan, Bergman, Peter, Bondesan, Simone, Bryceson, Yenan T., Bustos, Ingrid G., Cabrera-Marante, Oscar, Carcel, Sheila, Carrera, Paola, Casari, Giorgio, Chaïbi, Khalil, Colobran, Roger, Condino-Neto, Antonio, Covill, Laura E., Delmonte, Ottavia M., El Zein, Loubna, Flores, Carlos, Gregersen, Peter K., Gut, Marta, Haerynck, Filomeen, Halwani, Rabih, Hancerli, Selda, Hammarström, Lennart, Hatipoğlu, Nevin, Karbuz, Adem, Keles, Sevgi, Kyheng, Christèle, Leon-Lopez, Rafael, Franco, Jose Luis, Mansouri, Davood, Martinez-Picado, Javier, Metin Akcan, Ozge, Migeotte, Isabelle, Morange, Pierre-Emmanuel, Morelle, Guillaume, Martin-Nalda, Andrea, Novelli, Giuseppe, Novelli, Antonio, Ozcelik, Tayfun, Palabiyik, Figen, Pan-Hammarström, Qiang, de Diego, Rebeca Pérez, Planas-Serra, Laura, Pleguezuelo, Daniel E., Prando, Carolina, Pujol, Aurora, Reyes, Luis Felipe, Rivière, Jacques G., Rodriguez-Gallego, Carlos, Rojas, Julian, Rovere-Querini, Patrizia, Schlüter, Agatha, Shahrooei, Mohammad, Sobh, Ali, Soler-Palacin, Pere, Tandjaoui-Lambiotte, Yacine, Tipu, Imran, Tresoldi, Cristina, Troya, Jesus, van de Beek, Diederik, Zatz, Mayana, Zawadzki, Pawel, Al-Muhsen, Saleh Zaid, Alosaimi, Mohammed Faraj, Alsohime, Fahad M., Baris-Feldman, Hagit, Butte, Manish J., Constantinescu, Stefan N., Cooper, Megan A., Dalgard, Clifton L., Fellay, Jacques, Heath, James R., Lau, Yu-Lung, Lifton, Richard P., Maniatis, Tom, Mogensen, Trine H., von Bernuth, Horst, Lermine, Alban, Vidaud, Michel, Boland, Anne, Deleuze, Jean-François, Nussbaum, Robert, Kahn-Kirby, Amanda, Mentre, France, Tubiana, Sarah, Gorochov, Guy, Tubach, Florence, Hausfater, Pierre, Meyts, Isabelle, Zhang, Shen-Ying, Puel, Anne, Notarangelo, Luigi D., Boisson-Dupuis, Stephanie, Su, Helen C., Boisson, Bertrand, Jouanguy, Emmanuelle, Casanova, Jean-Laurent, Zhang, Qian, Abel, Laurent, Cobat, Aurélie
Publicado 2023

The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies

por Manry, Jeremy, Bastard, Paul, Gervais, Adrian, Le Voyer, Tom, Rosain, Jérémie, Philippot, Quentin, Michailidis, Eleftherios, Hoffmann, Hans-Heinrich, Eto, Shohei, Garcia-Prat, Marina, Bizien, Lucy, Parra-Martínez, Alba, 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, Jesus, Trouillet-Assant, Sophie, Belot, Alexandre, Saker, Kahina, Garçon, Pierre, Rivière, Jacques G., Lagier, Jean-Christophe, Gentile, Stéphanie, Rosen, Lindsey, Shaw, Elana, Morio, Tomohiro, Tanaka, Junko, Dalmau, David, Tharaux, Pierre-Louis, Sene, Damien, Stepanian, Alain, Mégarbane, Bruno, Triantafyllia, Vasiliki, Fekkar, Arnaud, Heath, James, Franco, Jose, Anaya, Juan-Manuel, Solé-Violán, Jordi, Imberti, Luisa, Biondi, Andrea, Bonfanti, Paolo, Castagnoli, Riccardo, Delmonte, Ottavia, Zhang, Yu, Snow, Andrew, Holland, Steve, Biggs, Catherine, Moncada-Vélez, Marcela, Arias, Andrés, Lorenzo, Lazaro, Boucherit, Soraya, Anglicheau, Dany, Planas, Anna, Haerynck, Filomeen, Duvlis, Sotirija, Nussbaum, Robert, Ozcelik, Tayfun, Keles, Sevgi, Bousfiha, Aziz, El Bakkouri, Jalila, Ramirez-Santana, Carolina, Paul, Stéphane, Pan-Hammarstrom, Qiang, Hammarstrom, Lennart, Dupont, Annabelle, Kurolap, Alina, Metz, Christine, Aiuti, Alessandro, Casari, Giorgio, Lampasona, Vito, Ciceri, Fabio, Barreiros, Lucila, Dominguez-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, Burrel, Sonia, Duffy, Darragh, Quintana-Murci, Lluis, Klocperk, Adam, Kann, Nelli, Shcherbina, Anna, Lau, Yu-Lung, Leung, Daniel, Coulongeat, Matthieu, Marlet, Julien, Koning, Rutger, Reyes, Luis, Chauvineau-Grenier, Angélique, Venet, Fabienne, monneret, guillaume, Nussenzweig, Michel, Arrestier, Romain, Boudhabhay, Idris, Baris-Feldman, Hagit, Hagin, David, Wauters, Joost, Meyts, Isabelle, Dyer, Adam, Kennelly, Sean, Bourke, Nollaig, Halwani, Rabih, Sharif-Askari, Fatemeh, Dorgham, Karim, Sallette, Jérôme, Mehlal-Sedkaoui, Souad, AlKhater, Suzan, Rigo-Bonnin, Raúl, Morandeira, Francisco, Roussel, Lucie, Vinh, Donald, Erikstrup, Christian, Condino-Neto, Antonio, Prando, Carolina, Bondarenko, Anastasiia, Spaan, András, Gilardin, Laurent, Fellay, Jacques, Lyonnet, Stanislas, Bilguvar, Kaya, Lifton, Richard, Mane, Shrikant, Anderson, Mark, Boisson, Bertrand, Béziat, Vivien, Zhang, Shen-Ying, Andreakos, Evangelos, Hermine, Olivier, Pujol, Aurora, Peterson, Pärt, Mogensen, Trine Hyrup, Rowen, Lee, Mond, James, Debette, Stéphanie, deLamballerie, Xavier, Burdet, Charles, Bouadma, Lila, Zins, Marie, Soler-Palacin, Pere, Colobran, Roger, Gorochov, Guy, Solanich, Xavier, Susen, Sophie, Martinez-Picado, Javier, Raoult, Didier, Vasse, Marc, Gregersen, Peter, Rodríguez-Gallego, Carlos, Piemonti, Lorenzo, Notarangelo, Luigi, Su, Helen, Kisand, Kai, Okada, Satoshi, Puel, Anne, Jouanguy, Emmanuelle, Rice, Charles, Tiberghien, Pierre, Zhang, Qian, Casanova, Jean-Laurent, Abel, Laurent, Cobat, Aurélie
Publicado 2022