Search Results - "Riviere, Jacques G"

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score by Tesch, Victoria Katharina, Abolhassani, Hassan, Shadur, Bella, Zobel, Joachim, Mareika, Yuliya, Sharapova, Svetlana, Karakoc-Aydiner, Elif, Rivière, Jacques G., Garcia-Prat, Marina, Moes, Nicolette, Haerynck, Filomeen, Gonzales-Granado, Luis I., Santos Pérez, Juan Luis, Mukhina, Anna, Shcherbina, Anna, Aghamohammadi, Asghar, Hammarström, Lennart, Dogu, Figen, Haskologlu, Sule, İkincioğulları, Aydan İ., Köstel Bal, Sevgi, Baris, Safa, Kilic, Sara Sebnem, Karaca, Neslihan Edeer, Kutukculer, Necil, Girschick, Hermann, Kolios, Antonios, Keles, Sevgi, Uygun, Vedat, Stepensky, Polina, Worth, Austen, van Montfrans, Joris M., Peters, Anke M.J., Meyts, Isabelle, Adeli, Mehdi, Marzollo, Antonio, Padem, Nurcicek, Khojah, Amer M., Chavoshzadeh, Zahra, Avbelj Stefanija, Magdalena, Bakhtiar, Shahrzad, Florkin, Benoit, Meeths, Marie, Gamez, Laura, Grimbacher, Bodo, Seppänen, Mikko R.J., Lankester, Arjan, Gennery, Andrew R., Seidel, Markus G.

“…Recent findings strongly support hematopoietic stem cell transplantation (HSCT) in patients with severe presentation of LPS-responsive beige-like anchor…”
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Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis by Blincoe, Annaliesse, Heeg, Maximilian, Campbell, Patrick K., Hines, Melissa, Khojah, Amer, Klein-Gitelman, Marisa, Talano, Julie-An, Speckmann, Carsten, Touzot, Fabien, Lankester, Arjan, Legger, Geertje E., Rivière, Jacques G., Garcia-Prat, Marina, Alonso, Laura, Putti, Maria C., Lehmberg, Kai, Maier, Sarah, El Chazli, Yasmine, Elmaksoud, Marwa Abd, Astigarraga, Itziar, Kurjane, Natalja, Bulina, Inita, Kenina, Viktorija, Bryceson, Yenan, Rascon, Jelena, Lortie, Anne, Goldstein, Gal, Booth, Claire, Worth, Austen, Wassmer, Evangeline, Schmitt, Erica G., Warren, Julia T., Bednarski, Jeffrey J., Ali, Salah, Chiang, Kuang-Yueh, Krueger, Joerg, Henry, Michael M., Holland, Steven M., Marsh, Rebecca A., Ehl, Stephan, Haddad, Elie

“…Isolated neuroinflammatory disease has been described in case reports of familial hemophagocytic lymphohistiocytosis (FHL), but the clinical spectrum of…”
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First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain) by 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

“…Severe combined immunodeficiency (SCID), the most severe form of T-cell immunodeficiency, can be screened at birth by quantifying T-cell receptor excision…”
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Newborn Screening for SCID: Experience in Spain (Catalonia) by 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

“…Newborn screening (NBS) for severe combined immunodeficiency (SCID) started in Catalonia in January-2017, being the first Spanish and European region to…”
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Multi-inflammatory Syndrome in Children Related to Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) in Spain by Moraleda, Cinta, Serna-Pascual, Miquel, Soriano-Arandes, Antoni, Simó, Silvia, Epalza, Cristina, Santos, Mar, Grasa, Carlos, Rodríguez, Maria, Soto, Beatriz, Gallego, Nerea, Ruiz, Yolanda, Urretavizcaya-Martínez, María, Pareja, Marta, Sanz-Santaeufemia, Francisco José, Fumadó, Victoria, Lanaspa, Miguel, Jordan, Iolanda, Prieto, Luis, Belda, Sylvia, Toral-Vázquez, Belén, Rincón, Elena, Gil-Villanueva, Nuria, Méndez-Echevarría, Ana, Castillo-Serrano, Ana, Rivière, Jacques G, Soler-Palacín, Pere, Rojo, Pablo, Tagarro, Alfredo

“…Some clusters of children with a multisystem inflammatory syndrome (MIS-C) associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)…”
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Proceedings from the inaugural Artificial Intelligence in Primary Immune Deficiencies (AIPID) conference by Rivière, Jacques G., Soler Palacín, Pere, Butte, Manish J.

“…Here, we summarize the proceedings of the inaugural Artificial Intelligence in Primary Immune Deficiencies conference, during which experts and advocates…”
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Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients by Frémond, Marie-Louise, Hadchouel, Alice, Berteloot, Laureline, Melki, Isabelle, Bresson, Violaine, Barnabei, Laura, Jeremiah, Nadia, Belot, Alexandre, Bondet, Vincent, Brocq, Olivier, Chan, Damien, Dagher, Rawane, Dubus, Jean-Christophe, Duffy, Darragh, Feuillet-Soummer, Séverine, Fusaro, Mathieu, Gattorno, Marco, Insalaco, Antonella, Jeziorski, Eric, Kitabayashi, Naoki, Lopez-Corbeto, Mireia, Mazingue, Françoise, Morren, Marie-Anne, Rice, Gillian I., Rivière, Jacques G., Seabra, Luis, Sirvente, Jérôme, Soler-Palacin, Pere, Stremler-Le Bel, Nathalie, Thouvenin, Guillaume, Thumerelle, Caroline, Van Aerde, Eline, Volpi, Stefano, Willcocks, Sophie, Wouters, Carine, Breton, Sylvain, Molina, Thierry, Bader-Meunier, Brigitte, Moshous, Despina, Fischer, Alain, Blanche, Stéphane, Rieux-Laucat, Frédéric, Crow, Yanick J., Neven, Bénédicte

“…Gain-of-function mutations in STING1 underlie a type I interferonopathy termed SAVI (STING-associated vasculopathy with onset in infancy). This severe disease…”
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Multisystem Inflammatory Syndrome in Children in Western Countries? Decreasing Incidence as the Pandemic Progresses?: An Observational Multicenter International Cross-sectional Study by Buonsenso, Danilo, Perramon, Aida, Català, Martí, Torres, Juan P., Camacho-Moreno, Germán, Rojas-Solano, Mariela, Ulloa-Gutierrez, Rolando, Camacho-Badilla, Kattia, Pérez-Corrales, Cristian, Cotugno, Nicola, Yamazaki-Nakashimada, Marco A., Estripeaut, Dora, Buddingh, Emilie Pauline, von Asmuth, Erik, van Rossum, Annemarie M.C., Soler-Palacin, Pere, Rivière, Jacques G., Prats, Clara, Pino, Rosa, Paredes-Carmona, Fernando, Visa-Reñé, Núria, García-Salido, Alberto, Martínez-Mejias, Abel, Soriano-Arandes, Antoni

“…SARS-CoV-2 variations as well as immune protection after previous infections and/or vaccination may have altered the incidence of multisystemic inflammatory…”
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Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis by 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

“…Enterovirus (EV) infection rarely results in life-threatening infection of the central nervous system. We report two unrelated children with EV30 and EV71…”
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Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism by Batlle-Masó, Laura, Rivière, Jacques G., Franco-Jarava, Clara, Martín-Nalda, Andrea, Garcia-Prat, Marina, Parra-Martínez, Alba, Aguiló-Cucurull, Aina, Castells, Neus, Martinez-Gallo, Mónica, Soler-Palacín, Pere, Colobran, Roger

“…Chronic granulomatous disease (CGD) is a prototypical inborn error of immunity affecting phagocytes, in which these cells are unable to produce reactive oxygen…”
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LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy by 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

“…LRBA deficiency was first described in 2012 as an autosomal recessive disorder caused by biallelic mutations in the gene (OMIM #614700). It was initially…”
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Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity by Haimel, Matthias, Pazmandi, Julia, Heredia, Raúl 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

“…Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new…”
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Development of an Expert-Based Scoring System for Early Identification of Patients with Inborn Errors of Immunity in Primary Care Settings – the PIDCAP Project by Rivière, Jacques G., Carot-Sans, Gerard, Piera-Jiménez, Jordi, de la Torre, Sergi, Cos, Xavier, Serra-Picamal, Xavier, Soler-Palacin, Pere

“…Early diagnosis of inborn errors of immunity (IEIs) has been shown to reduce mortality, morbidity, and healthcare costs. The need for early diagnosis has led…”
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Is Oral Route an Option for Intravenous Human Immunoglobulin As an Adjunctive Treatment for Recurrent Diarrhea in Immunocompromised Pediatric Patients? Extended Follow-up by Soler-Palacin, Pere, Riviere, Jacques G, Oller, Olga, Fernandez-Polo, Aurora, Garcia-Prat, Marina, Martin-Nalda, Andrea

“…Methods Retrospective study of gastroenteritis due in IP who required admission from November 2014-March 2016 in whom standard therapy failed and received…”
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Atypical Inflammatory Syndrome Triggered by SARS-CoV-2 in Infants with Down Syndrome by 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

“…While adults with Down syndrome (DS) are at increased risk of severe COVID-19 pneumonia, little is known about COVID-19 in children with DS. In children…”
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Multisystem inflammatory syndrome in children and SARS-CoV-2 variants: a two-year ambispective multicentric cohort study in Catalonia, Spain by 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

“…Multisystem inflammatory syndrome in children (MIS-C) is a rare but severe disease temporarily related to SARS-CoV-2. We aimed to describe the epidemiological,…”
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Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report by 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

“…Syndromic immunodeficiencies are a heterogeneous group of inborn errors of immunity that can affect the development of non-immune organs and systems. The…”
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Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications by 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

“…Autoimmune lymphoproliferative syndrome (ALPS) is a rare primary immune disorder characterized by impaired apoptotic homeostasis. The clinical characteristics…”
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FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis by Viñas-Giménez, Laura, Padilla, Natàlia, Batlle-Masó, Laura, Casals, Ferran, Rivière, Jacques G, Martínez-Gallo, Mónica, de la Cruz, Xavier, Colobran, Roger

“…Primary immunodeficiencies (PIDs) are a heterogeneous group of disorders. The lack of comprehensive disease-specific mutation databases may hinder or delay…”
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Treatments for multi-system inflammatory syndrome in children — discharge, fever, and second-line therapies by 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

“…Scarce evidence exists about the best treatment for multi-system inflammatory syndrome (MIS-C). We analyzed the effects of steroids, intravenous immunoglobulin…”
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