Impact of placental malaria on maternal, placental and fetal cord responses and its role in pregnancy outcomes in women from Blue Nile State, Sudan

por Omer, Samia, Franco-Jarava, Clara, Noureldien, Ali, Omer, Mona, Abdelrahim, Mutasim, Molina, Israel, Adam, Ishag
Publicado 2021

Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency

por Labrador-Horrillo, Moisés, Franco-Jarava, Clara, Garcia-Prat, Marina, Parra-Martínez, Alba, Antolín, María, Salgado-Perandrés, Sandra, Aguiló-Cucurull, Aina, Martinez-Gallo, Mónica, Colobran, Roger
Publicado 2022

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

Cytokine Hemoadsorption as Rescue Therapy for Critically Ill Patients With SARS-CoV-2 Pneumonia With Severe Respiratory Failure and Hypercytokinemia

por Ruiz-Rodríguez, Juan Carlos, Chiscano-Camón, Luis, Ruiz-Sanmartin, Adolf, Palmada, Clara, Paola Plata-Menchaca, Erika, Franco-Jarava, Clara, Pérez-Carrasco, Marcos, Hernández-González, Manuel, Ferrer, Ricard
Publicado 2022

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

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 Boluda-Navarro, Mireia, Ibáñez, Mariam, Liquori, Alessandro, Franco-Jarava, Clara, Martínez-Gallo, Mónica, Rodríguez-Vega, Héctor, Teresa, Jaijo, Carreras, Carmen, Such, Esperanza, Zúñiga, Ángel, Colobran, Roger, Cervera, José Vicente
Publicado 2021

Reference values for interleukin‐6 in the amniotic fluid of asymptomatic pregnant women

por del Barco, Ester, Franco‐Jarava, Clara, Vargas, Mireia, Maíz, Nerea, Arevalo, Silvia, Sánchez, Maria Ángeles, Avilés, Maria Teresa, Rodó, Carlota, Mendoza, Manel, Goya, Maria, Hernández‐González, Manuel, Carreras, Elena
Publicado 2023

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

Case report: Cytokine hemoadsorption in a case of hemophagocytic lymphohistiocytosis secondary to extranodal NK/T-cell lymphoma

por Ruiz-Rodríguez, Juan Carlos, Chiscano-Camón, Luis, Ruiz-Sanmartin, Adolf, Palmada, Clara, Bajaña, Ivan, Iacoboni, Gloria, Bonilla, Camilo, García-Roche, Alejandra, Paola Plata-Menchaca, Erika, Maldonado, Carolina, Pérez-Carrasco, Marcos, Martinez-Gallo, Mónica, Franco-Jarava, Clara, Hernández-González, Manuel, Ferrer, Ricard
Publicado 2022

Immunological and genetic kinetics from diagnosis to clinical progression in chronic lymphocytic leukemia

por Jiménez, Isabel, Tazón-Vega, Bárbara, Abrisqueta, Pau, Nieto, Juan C., Bobillo, Sabela, Palacio-García, Carles, Carabia, Júlia, Valdés-Mas, Rafael, Munuera, Magdalena, Puigdefàbregas, Lluís, Parra, Genís, Esteve-Codina, Anna, Franco-Jarava, Clara, Iacoboni, Gloria, Terol, María José, García-Marco, José Antonio, Crespo, Marta, Bosch, Francesc
Publicado 2021

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

por Rudilla, Francesc, Franco-Jarava, Clara, Martínez-Gallo, Mónica, Garcia-Prat, Marina, Martín-Nalda, Andrea, Rivière, Jacques, Aguiló-Cucurull, Aina, Mongay, Laura, Vidal, Francisco, Solanich, Xavier, Irastorza, Iñaki, Santos-Pérez, Juan Luis, Tercedor Sánchez, Jesús, Cuscó, Ivon, Serra, Clara, Baz-Redón, Noelia, Fernández-Cancio, Mónica, Carreras, Carmen, Vagace, José Manuel, Garcia-Patos, Vicenç, Pujol-Borrell, Ricardo, Soler-Palacín, Pere, Colobran, Roger
Publicado 2019

Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies

por Dezfouli, Mahya, Bergström, Sofia, Skattum, Lillemor, Abolhassani, Hassan, Neiman, Maja, Torabi-Rahvar, Monireh, Franco Jarava, Clara, Martin-Nalda, Andrea, Ferrer Balaguer, Juana M., Slade, Charlotte A., Roos, Anja, Fernandez Pereira, Luis M., López-Trascasa, Margarita, Gonzalez-Granado, Luis I., Allende-Martinez, Luis M., Mizuno, Yumi, Yoshida, Yusuke, Friman, Vanda, Lundgren, Åsa, Aghamohammadi, Asghar, Rezaei, Nima, Hernández-Gonzalez, Manuel, von Döbeln, Ulrika, Truedsson, Lennart, Hara, Toshiro, Nonoyama, Shigeaki, Schwenk, Jochen M., Nilsson, Peter, Hammarström, Lennart
Publicado 2020