Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis por 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. por 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 por 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 por 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... por 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 por 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 por 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 por 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 por 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 por 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 por 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) por 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 por 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. por 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 por 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 por 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 por 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 por 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 por 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) por 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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