Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis -н Laura Viñas-Giménez, Laura Viñas-Giménez, Laura Viñas-Giménez, Rafael Rincón, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran, Xavier de la Cruz, Xavier de la Cruz, Verónica Paola Celis, José Luis Dapena, Laia Alsina, Joan Sayós, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Mónica Martínez-Gallo

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Impact of Helminth Infection on the Clinical and Microbiological Presentation of Chagas Diseases in Chronically Infected Patients. -н Fernando Salvador, Elena Sulleiro, Adrián Sánchez-Montalvá, Mónica Martínez-Gallo, Eugenia Carrillo, Israel Molina

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Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency -н Moisés Labrador-Horrillo, Clara Franco-Jarava, Clara Franco-Jarava, Clara Franco-Jarava, Clara Franco-Jarava, Marina Garcia-Prat, Marina Garcia-Prat, Marina Garcia-Prat, Alba Parra-Martínez, Alba Parra-Martínez, Alba Parra-Martínez, María Antolín, Sandra Salgado-Perandrés, Sandra Salgado-Perandrés, Sandra Salgado-Perandrés, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Mónica Martinez-Gallo, Mónica Martinez-Gallo, Mónica Martinez-Gallo, Mónica Martinez-Gallo, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran

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FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis -н Laura Viñas-Giménez, Laura Viñas-Giménez, Natàlia Padilla, Laura Batlle-Masó, Laura Batlle-Masó, Ferran Casals, Jacques G. Rivière, Jacques G. Rivière, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Xavier de la Cruz, Xavier de la Cruz, Roger Colobran, Roger Colobran, Roger Colobran

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Activation of the Monocyte/Macrophage System and Abnormal Blood Levels of Lymphocyte Subpopulations in Individuals with Autism Spectrum Disorder: A Systematic Review and Meta-Analy... -н Gara Arteaga-Henríquez, Jorge Lugo-Marín, Laura Gisbert, Imanol Setién-Ramos, Mónica Martínez-Gallo, Ricardo Pujol-Borrell, Josep Antoni Ramos-Quiroga

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Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications -н Laura Batlle-Masó, Laura Batlle-Masó, Laura Batlle-Masó, Marina Garcia-Prat, Marina Garcia-Prat, Marina Garcia-Prat, Alba Parra-Martínez, Alba Parra-Martínez, Alba Parra-Martínez, Clara Franco-Jarava, Clara Franco-Jarava, Clara Franco-Jarava, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Pablo Velasco, María Antolín, Jacques G. Rivière, Jacques G. Rivière, Jacques G. Rivière, Andrea Martín-Nalda, Andrea Martín-Nalda, Andrea Martín-Nalda, Pere Soler-Palacín, Pere Soler-Palacín, Pere Soler-Palacín, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran

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Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling -н Jacques G. Rivière, Jacques G. Rivière, Clara Franco-Jarava, Clara Franco-Jarava, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Laura Blasco-Pérez, Ida Paramonov, María Antolín, Andrea Martín-Nalda, Andrea Martín-Nalda, Pere Soler-Palacín, Pere Soler-Palacín, Roger Colobran, Roger Colobran, Roger Colobran

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

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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 -н Mireia Boluda-Navarro, Mariam Ibáñez, Mariam Ibáñez, Mariam Ibáñez, Mariam Ibáñez, Mariam Ibáñez, Alessandro Liquori, Clara Franco-Jarava, Clara Franco-Jarava, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Héctor Rodríguez-Vega, Jaijo Teresa, Carmen Carreras, Esperanza Such, Esperanza Such, Ángel Zúñiga, Roger Colobran, Roger Colobran, Roger Colobran, José Vicente Cervera, José Vicente Cervera

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Case report: Cytokine hemoadsorption in a case of hemophagocytic lymphohistiocytosis secondary to extranodal NK/T-cell lymphoma -н Juan Carlos Ruiz-Rodríguez, Juan Carlos Ruiz-Rodríguez, Juan Carlos Ruiz-Rodríguez, Luis Chiscano-Camón, Luis Chiscano-Camón, Luis Chiscano-Camón, Adolf Ruiz-Sanmartin, Adolf Ruiz-Sanmartin, Adolf Ruiz-Sanmartin, Clara Palmada, Clara Palmada, Ivan Bajaña, Ivan Bajaña, Gloria Iacoboni, Gloria Iacoboni, Camilo Bonilla, Camilo Bonilla, Alejandra García-Roche, Alejandra García-Roche, Erika Paola Plata-Menchaca, Erika Paola Plata-Menchaca, Erika Paola Plata-Menchaca, Carolina Maldonado, Carolina Maldonado, Marcos Pérez-Carrasco, Marcos Pérez-Carrasco, Marcos Pérez-Carrasco, Mónica Martinez-Gallo, Mónica Martinez-Gallo, Mónica Martinez-Gallo, Mónica Martinez-Gallo, Clara Franco-Jarava, Clara Franco-Jarava, Manuel Hernández-González, Manuel Hernández-González, Manuel Hernández-González, Ricard Ferrer, Ricard Ferrer, Ricard Ferrer

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LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy -н Pere Soler-Palacín, Pere Soler-Palacín, Marina Garcia-Prat, Marina Garcia-Prat, Andrea Martín-Nalda, Andrea Martín-Nalda, Clara Franco-Jarava, Clara Franco-Jarava, Jacques G. Rivière, Jacques G. Rivière, Alberto Plaja, Daniela Bezdan, Daniela Bezdan, Mattia Bosio, Mattia Bosio, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Stephan Ossowski, Stephan Ossowski, Stephan Ossowski, Roger Colobran, Roger Colobran, Roger Colobran

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Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years’ experience in Catalonia (Spain) -н Andrea Martin‐Nalda, Anna M. Cueto‐González, Ana Argudo‐Ramírez, Jose L. Marin‐Soria, Monica Martinez‐Gallo, Roger Colobran, Albert Plaja, Neus Castells, Jacques Riviere, Eduardo F. Tizzano, Pere Soler‐Palacin

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JAK2-STAT Epigenetically Regulates Tolerized Genes in Monocytes in the First Encounter With Gram-Negative Bacterial Endotoxins in Sepsis -н Octavio Morante-Palacios, Clara Lorente-Sorolla, Laura Ciudad, Josep Calafell-Segura, Antonio Garcia-Gomez, Francesc Català-Moll, Adolfo Ruiz-Sanmartín, Mónica Martínez-Gallo, Ricard Ferrer, Juan Carlos Ruiz-Rodriguez, Damiana Álvarez-Errico, Esteban Ballestar

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Simple predictive models identify patients with COVID-19 pneumonia and poor prognosis. -н Mar Riveiro-Barciela, Moisés Labrador-Horrillo, Laura Camps-Relats, Didac González-Sans, Meritxell Ventura-Cots, María Terrones-Peinador, Andrea Nuñez-Conde, Mónica Martínez-Gallo, Manuel Hernández, Andrés Antón, Antonio González, Ricardo Pujol-Borrell, Fernando Martínez-Valle

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Coordinated Response to Imported Vaccine-Derived Poliovirus Infection, Barcelona, Spain, 2019–2020 -н Dolores Álamo-Junquera, Julieta Politi, Pere Simón, Romina Dieli-Crimi, Ricardo Pujol Borrell, Roger Colobran, Monica Martínez-Gallo, Magda Campins, Andrés Antón, Juliana Esperalba, Cristina Andrés, María Gema Codina, Eva Polverino, M. Rosa Narciso, Emilia Molinero, Cristina Rius

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Epigenetic and transcriptomic reprogramming in monocytes of severe COVID-19 patients reflects alterations in myeloid differentiation and the influence of inflammatory cytokines -н Gerard Godoy-Tena, Anis Barmada, Octavio Morante-Palacios, Carlos de la Calle-Fabregat, Ricardo Martins-Ferreira, Anna G. Ferreté-Bonastre, Laura Ciudad, Adolfo Ruiz-Sanmartín, Mónica Martínez-Gallo, Ricard Ferrer, Juan Carlos Ruiz-Rodriguez, Javier Rodríguez-Ubreva, Roser Vento-Tormo, Esteban Ballestar

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Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening -н Andrea Martín-Nalda, Jacques G. Rivière, Mireia Català-Besa, Marina García-Prat, Alba Parra-Martínez, Mónica Martínez-Gallo, Roger Colobran, Ana Argudo-Ramírez, Jose Luis Marín-Soria, Judit García-Villoria, Laura Alonso, Jose Antonio Arranz-Amo, Giancarlo la Marca, Pere Soler-Palacín

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Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond -н Guillem de Valles-Ibáñez, Ana Esteve-Solé, Ana Esteve-Solé, Mònica Piquer, Mònica Piquer, E. Azucena González-Navarro, E. Azucena González-Navarro, Jessica Hernandez-Rodriguez, Hafid Laayouni, Hafid Laayouni, Eva González-Roca, Eva González-Roca, Ana María Plaza-Martin, Ana María Plaza-Martin, Ángela Deyà-Martínez, Ángela Deyà-Martínez, Andrea Martín-Nalda, Andrea Martín-Nalda, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Marina García-Prat, Marina García-Prat, Lucía del Pino-Molina, Ivón Cuscó, Ivón Cuscó, Marta Codina-Solà, Marta Codina-Solà, Laura Batlle-Masó, Laura Batlle-Masó, Manuel Solís-Moruno, Manuel Solís-Moruno, Tomàs Marquès-Bonet, Tomàs Marquès-Bonet, Tomàs Marquès-Bonet, Elena Bosch, Eduardo López-Granados, Juan Ignacio Aróstegui, Juan Ignacio Aróstegui, Pere Soler-Palacín, Pere Soler-Palacín, Roger Colobran, Roger Colobran, Roger Colobran, Jordi Yagüe, Jordi Yagüe, Laia Alsina, Laia Alsina, Manel Juan, Manel Juan, Ferran Casals

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Recovery of serum testosterone levels is an accurate predictor of survival from COVID-19 in male patients -н Emily Toscano-Guerra, Mónica Martínez Gallo, Iria Arrese-Muñoz, Anna Giné, Noelia Díaz-Troyano, Pablo Gabriel-Medina, Mar Riveiro-Barciela, Moisés Labrador-Horrillo, Fernando Martinez-Valle, Adrián Sánchez Montalvá, Manuel Hernández-González, Ricardo Pujol Borrell, Francisco Rodríguez-Frias, Roser Ferrer, Timothy M. Thomson, Rosanna Paciucci

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Newborn Screening for SCID: Experience in Spain (Catalonia) -н Ana Argudo-Ramírez, Andrea Martín-Nalda, Jose Manuel González de Aledo-Castillo, Rosa López-Galera, Jose Luis Marín-Soria, Sonia Pajares-García, Mónica Martínez-Gallo, Marina García-Prat, Roger Colobran, Jacques G. Riviere, Yania Quintero, Tatiana Collado, Antonia Ribes, Judit García-Villoria, Pere Soler-Palacín

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