Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly
Rodriguez-Laguna, Lara, Agra, Noelia, Ibañez, Kristina, Oliva-Molina, Gloria, Gordo, Gema, Khurana, Noor, Hominick, Devon, Beato, María, Colmenero, Isabel, Herranz, Gonzalo, Torres Canizalez, Juan M, Rodríguez Pena, Rebeca, Vallespín, Elena, Martín-Arenas, Rubén, Del Pozo, Ángela, Villaverde, Cristina, Bustamante, Ana, Ayuso, Carmen, Lapunzina, Pablo, Lopez-Gutierrez, Juan C, Dellinger, Michael T, Martinez-Glez, Victor
Published in The Journal of experimental medicine (04.02.2019)
Published in The Journal of experimental medicine (04.02.2019)
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Impaired control of multiple viral infections in a family with complete IRF9 deficiency
Bravo García-Morato, María, Calvo Apalategi, Ane, Bravo-Gallego, Luz Yadira, Blázquez Moreno, Alfonso, Simón-Fuentes, Miriam, Garmendia, Jenny V., Méndez Echevarría, Ana, del Rosal Rabes, Teresa, Domínguez-Soto, Ángeles, López-Granados, Eduardo, Reyburn, Hugh T., Rodríguez Pena, Rebeca
Published in Journal of allergy and clinical immunology (01.07.2019)
Published in Journal of allergy and clinical immunology (01.07.2019)
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Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management
López-Nevado, Marta, González-Granado, Luis I., Ruiz-García, Raquel, Pleguezuelo, Daniel, Cabrera-Marante, Oscar, Salmón, Nerea, Blanco-Lobo, Pilar, Domínguez-Pinilla, Nerea, Rodríguez-Pena, Rebeca, Sebastián, Elena, Cruz-Rojo, Jaime, Olbrich, Peter, Ruiz-Contreras, Jesús, Paz-Artal, Estela, Neth, Olaf, Allende, Luis M.
Published in Frontiers in immunology (10.08.2021)
Published in Frontiers in immunology (10.08.2021)
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Genetics of inborn errors of immunity: Diagnostic strategies and new approaches to CNV detection
Pérez, Elisabet Matas, Torbay, Andrea González, López, Mario Solis, Cámara, Ricardo Cuesta Martín, Jiménez, Carmen Rodríguez, Álvarez, Mari Ángeles Mori, Blanco, Julián Nevado, Gianelli, Carla, Hijón, Carmen Cámara, Granados, Eduardo López, Pena, Rebeca Rodríguez, Pozo Mate, Ángela, García‐Morato, María Bravo
Published in European journal of clinical investigation (01.06.2024)
Published in European journal of clinical investigation (01.06.2024)
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Journal Article
Evaluation of B‐cell intracellular signaling by monitoring the PI3K‐Akt axis in patients with common variable immunodeficiency and activated phosphoinositide 3‐kinase delta syndrome
del Pino‐Molina, Lucía, Torres Canizales, Juan M., Rodríguez‐Pena, Rebeca, López‐Granados, Eduardo
Published in Cytometry. Part B, Clinical cytometry (01.07.2021)
Published in Cytometry. Part B, Clinical cytometry (01.07.2021)
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Next Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome
López-Nevado, Marta, Docampo-Cordeiro, Jorge, Ramos, José T, Rodríguez-Pena, Rebeca, Gil-López, Celia, Sánchez-Ramón, Silvia, Gil-Herrera, Juana, Díaz-Madroñero, María J, Delgado-Martín, María A, Morales-Pérez, Pablo, Paz-Artal, Estela, Magerus, Aude, Rieux-Laucat, Frederic, Allende, Luis M
Published in Frontiers in immunology (29.04.2021)
Published in Frontiers in immunology (29.04.2021)
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Detection of specific RBD + IgG + memory B cells by flow cytometry in healthcare workers and patients with inborn errors of immunity after BNT162b2 m RNA COVID-19 vaccination
Del Pino Molina, Lucía, Bravo Gallego, Luz Yadira, Nozal, Pilar, Soto-Serrano, Yolanda, Martínez-Feito, Ana, Reche-Yebra, Keren, González-Torbay, Andrea, Cuesta-Martín de la Cámara, Ricardo, Gianelli, Carla, Cámara, Carmen, González-García, J, González-Muñoz, Miguel, Rodríguez-Pena, Rebeca, López Granados, Eduardo
Published in Frontiers in immunology (04.05.2023)
Published in Frontiers in immunology (04.05.2023)
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Journal Article
A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis
Gallego-Bustos, Fernando, Gotea, Valer, Ramos-Amador, José T, Rodríguez-Pena, Rebeca, Gil-Herrera, Juana, Sastre, Ana, Delmiro, Aitor, Rai, Ghadi, Elnitski, Laura, González-Granado, Luis I, Allende, Luis M
Published in Frontiers in immunology (27.10.2016)
Published in Frontiers in immunology (27.10.2016)
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Chronic granulomatous disease caused by maternal uniparental isodisomy of chromosome 16
Bravo García-Morato, María, Nevado, Julián, González-Granado, Luis Ignacio, Sastre Urgelles, Ana, Rodríguez Pena, Rebeca, Ferreira Cerdán, Antonio
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01.07.2017)
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01.07.2017)
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Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity
Torres, Juan Manuel, Martinez-Barricarte, Rubén, García-Gómez, Sonia, Mazariegos, Marina S, Itan, Yuval, Boisson, Bertrand, Rholvarez, Rita, Jiménez-Reinoso, Anaïs, del Pino, Lucia, Rodríguez-Pena, Rebeca, Ferreira, Antonio, Hernández-Jiménez, Enrique, Toledano, Victor, Cubillos-Zapata, Carolina, Díaz-Almirón, Mariana, López-Collazo, Eduardo, Unzueta-Roch, José L, Sánchez-Ramón, Silvia, Regueiro, Jose R, López-Granados, Eduardo, Casanova, Jean-Laurent, Pérez de Diego, Rebeca
Published in The Journal of clinical investigation (01.12.2014)
Published in The Journal of clinical investigation (01.12.2014)
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Journal Article
The lack of either IRF9, or STAT2, has surprisingly little effect on human natural killer cell development and function
Calvo‐Apalategi, Ane, Nevado, Marta López, Bravo‐Gallego, Luz Yadira, González‐Granado, Luis Ignacio, Allende, Luis M., Pena, Rebeca Rodríguez, López‐Granados, Eduardo, Reyburn, Hugh T.
Published in Immunology (01.07.2024)
Published in Immunology (01.07.2024)
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Journal Article
Identification of the first cases of complete CD16A deficiency: Association with persistent EBV infection
Pérez-Portilla, A., Moraru, M., Blázquez-Moreno, Alfonso, Kolb, Philipp, Bravo García-Morato, María, Ranganath, Thanmayi, Esteso, Gloria, Gianelli, Carla, Rodríguez-Pena, Rebeca, Lozano-Rodríguez, Roberto, Torres-Canizales, Juan Manuel, Blish, Catherine A., Vales-Gomez, Mar, Hengel, Hartmut, Vilches, Carlos, López-Granados, Eduardo, Reyburn, Hugh T.
Published in Journal of allergy and clinical immunology (01.04.2020)
Published in Journal of allergy and clinical immunology (01.04.2020)
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Journal Article
New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy
Bravo García-Morato, María, Aracil Santos, Francisco Javier, Briones, Alejandro Contreras, Blázquez Moreno, Alfonso, del Pozo Maté, Ángela, Domínguez-Soto, Ángeles, Beato Merino, María José, del Pino Molina, Lucía, Torres Canizales, Juan, Marin, Ana Victoria, Vallespín García, Elena, Feito Rodríguez, Marta, Plaza López Sabando, Diego, Jiménez-Reinoso, Anaïs, Mozo del Castillo, Yasmina, Sanz Santaeufemia, Francisco José, de Lucas-Laguna, Raúl, Cárdenas, Paula P., Casamayor Polo, Laura, Coronel Díaz, María, Valés-Gómez, Mar, Roldán Santiago, Ernesto, Ferreira Cerdán, Antonio, Nevado Blanco, Julián, Corbí, Ángel L., Reyburn, Hugh T., Regueiro, José Ramón, López-Granados, Eduardo, Rodríguez Pena, Rebeca
Published in Journal of allergy and clinical immunology (01.05.2018)
Published in Journal of allergy and clinical immunology (01.05.2018)
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Journal Article
Clinical Features Before Hematopoietic Stem Cell Transplantation or Enzyme Replacement Therapy of Children With Combined Immunodeficiency
Méndez-Echevarría, Ana, Del Rosal, Teresa, Pérez-Costa, Elena, Rodríguez-Pena, Rebeca, Zarauza, Alejandro, Ferreira-Cerdán, Antonio, Bravo, Maria, Mellado, María José, López-Granados, Eduardo
Published in The Pediatric infectious disease journal (01.07.2016)
Published in The Pediatric infectious disease journal (01.07.2016)
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Executive Summary of the Consensus Document on the Diagnosis and Management of Patients with Primary Immunodeficiencies
Cordero, Elisa, Goycochea-Valdivia, Walter, Mendez-Echevarria, Ana, Allende, Luis M, Alsina, Laia, Bravo García-Morato, Maria, Gil-Herrera, Juana, Gudiol, Carlota, Len-Abad, Oscar, López-Medrano, Francisco, Moreno-Pérez, David, Muñoz, Patricia, Olbrich, Peter, Sánchez-Ramón, Silvia, Soler-Palacín, Pere, Aguilera Cros, Clara, Arostegui, Juan Ignacio, Badell Serra, Isabel, Carbone, Javier, Fortún, Jesús, Gonzalez-Granado, Luis I, López-Granados, Eduardo, Lucena, José Manuel, Parody, Rocío, Ramakers, Jan, Regueiro, José R, Rivière, Jacques G, Roca-Oporto, Cristina, Rodríguez Pena, Rebeca, Santos-Pérez, Juan Luis, Rodríguez-Gallego, Carlos, Neth, Olaf
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01.11.2020)
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01.11.2020)
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The role of respiratory viruses in children with humoral immunodeficiency on immunoglobulin replacement therapy
Benavides‐Nieto, Marta, Méndez‐Echevarría, Ana, del Rosal, Teresa, García‐García, María Luz, Casas, Inmaculada, Pozo, Francisco, de la Serna, Olga, Lopez‐Granados, Eduardo, Rodriguez‐Pena, Rebeca, Calvo, Cristina
Published in Pediatric pulmonology (01.02.2019)
Published in Pediatric pulmonology (01.02.2019)
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Specific Immunological Response to Budesonide in a Patient with Delayed-Type Hypersensitivity Reaction
Lopez, Soledad, Torres, Maria J., Antunez, Cristina, Rodríguez-Pena, Rebeca, Canto, Gabriela, Blanca, Miguel, Mayorga, Cristobalina
Published in Journal of investigative dermatology (01.03.2010)
Published in Journal of investigative dermatology (01.03.2010)
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A mutation in the promoter region of BTK causes atypical XLA
Bravo García-Morato, María, del Pino Molina, Lucía, Torres Canizales, Juan Manuel, del Rosal Rabes, Teresa, Méndez Echevarría, Ana, González Martínez, Berta, López-Granados, Eduardo, Rodríguez Pena, Rebeca
Published in Heliyon (01.09.2020)
Published in Heliyon (01.09.2020)
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Journal Article
Clinical and Immunological Features of Adult-Onset Generalized Autoimmune Gut Disorder
LEON, Francisco, OLIVENCIA, Pilar, RODRIGUEZ-PENA, Rebeca, SANCHEZ, Laura, REDONDO, Clara, ALVAREZ, Isabel, MOREIRA, Victor, ROY, Garbine
Published in The American journal of gastroenterology (01.08.2004)
Published in The American journal of gastroenterology (01.08.2004)
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Journal Article
Trends in cord blood banking
Arrojo, Isidro Prat, Lamas, María del Carmen Hernández, Verdugo, Laura Ponce, Alfaro, Pascual Rizo, Pena, Rebeca Rodríguez, Gordo, Francisco Sánchez, Maldonado, Pilar Gómez, Gémar, Gracia García
Published in Blood transfusion = Trasfusione del sangue (01.01.2012)
Published in Blood transfusion = Trasfusione del sangue (01.01.2012)
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