Results overview: Found 10 records in 0.01 seconds.
Articles, 9 records found
Research literature, 1 records found
Articles 9 records found  
1.
6 p, 869.6 KB Reference values for interleukin-6 in the amniotic fluid of asymptomatic pregnant women / del Barco, Ester (Hospital Universitari Vall d'Hebron) ; Franco-Jarava, Clara (Hospital Universitari Vall d'Hebron) ; Vargas, Mireia (Hospital Universitari Vall d'Hebron) ; Maiz, Nerea (Hospital Universitari Vall d'Hebron) ; Arévalo, Silvia (Hospital Universitari Vall d'Hebron) ; Sánchez, Maria Ángeles (Hospital Universitari Vall d'Hebron) ; Avilés García, M. T. (Hospital Universitari Vall d'Hebron) ; Rodó, Carlota (Hospital Universitari Vall d'Hebron) ; Mendoza, Manel (Hospital Universitari Vall d'Hebron) ; Goya, M (Hospital Universitari Vall d'Hebron) ; Hernández-González, Manuel (Hospital Universitari Vall d'Hebron) ; Carreras Moratonas, Elena (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
Nowadays, proinflammatory factors are considered to play an important role in the pathophysiology of threatened preterm labor or chorioamnionitis. The aim of this study was to establish the normal reference range for interleukin-6 (IL-6) levels in the amniotic fluid and to identify factors which may alter this value. [...]
2023 - 10.1111/aogs.14524
Acta Obstetricia et Gynecologica Scandinavica, Vol. 102 (march 2023) , p. 480-485  
2.
11 p, 3.7 MB Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome : Diagnostic implications / Batlle-Masó, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Garcia-Prat, Marina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Parra-Martínez, Alba (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Franco-Jarava, Clara (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Aguiló-Cucurull, Aina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Velasco, Pablo (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Antolín, María (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Rivière, Jacques G.. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martínez Gallo, Mónica (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Colobrán Oriol, Roger (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
Autoimmune lymphoproliferative syndrome (ALPS) is a rare primary immune disorder characterized by impaired apoptotic homeostasis. The clinical characteristics include lymphoproliferation, autoimmunity (mainly cytopenia), and an increased risk of lymphoma. [...]
2022 - 10.3389/fimmu.2022.1014984
Frontiers in immunology, Vol. 13 (november 2022)  
3.
9 p, 1.0 MB 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 / Boluda-Navarro, Mireia (Instituto de Investigación Sanitaria La Fe) ; Ibáñez, Mariam (Universidad CEU Cardenal Herrera) ; Liquori, Alessandro (Instituto de Investigación Sanitaria La Fe) ; Franco-Jarava, Clara (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Martínez Gallo, Mónica (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Rodríguez-Vega, Héctor (Hospital Universitari i Politècnic La Fe (València)) ; Teresa, Jaijo (Hospital Universitari i Politècnic La Fe (València)) ; Carreras, Carmen (Hospital Universitari i Politècnic La Fe (València)) ; Such, Esperanza (Centro de Investigación Biomédica en Red de Cáncer) ; Zúñiga, Ángel (Hospital Universitari i Politècnic La Fe (València)) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Cervera, José (Hospital Universitari i Politècnic La Fe (València))
Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. [...]
2021 - 10.3389/fimmu.2021.625591
Frontiers in immunology, Vol. 12 (March 2021) , art. 625591  
4.
1.2 MB LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy / Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Garcia-Prat, Marina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Franco-Jarava, Clara (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Rivière, Jacques G.. (Jeffrey Modell Foundation Excellence Center) ; Plaja Rustein, Alberto (Hospital Universitari Vall d'Hebron) ; Bezdan, Daniela (Universitat Pompeu Fabra) ; Bosio, Mattia (Universitat Pompeu Fabra) ; Martínez Gallo, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Ossowski, Stephan (Institute of Medical Genetics and Applied Genomics, University of Tübingen) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
LRBA deficiency was first described in 2012 as an autosomal recessive disorder caused by biallelic mutations in the LRBA gene (OMIM #614700). It was initially characterized as producing early-onset hypogammaglobulinemia, autoimmune manifestations, susceptibility to inflammatory bowel disease, and recurrent infection. [...]
2018 - 10.3389/fimmu.2018.02397
Frontiers in immunology, Vol. 9 (october 2018)  
5.
605.4 KB Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies / Dezfouli, Mahya (Kungl. Tekniska högskolan (Suècia)) ; Bergström, Sofia (Kungl. Tekniska högskolan (Suècia)) ; Skattum, Lillemor (Clinical Immunology and Transfusion Medicine, Region Skåne (Suècia)) ; Abolhassani, Hassan (Tehran University of Medical Sciences) ; Neiman, Maja (Kungl. Tekniska högskolan (Suècia)) ; Torabi-Rahvar, Monireh (Tehran University of Medical Sciences) ; Franco-Jarava, Clara (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Ferrer Balaguer, Juana M. (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ; Slade, Charlotte A. (The Walter and Eliza Hall Institute of Medical Research) ; Roos, Anja (Sint Antonius Hospital) ; López-Trascasa, Margarita (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Gonzalez-Granado, Luis I. (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Allende-Martinez, Luis M. (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Mizuno, Yumi (Fukuoka Children's Hospital) ; Yoshida, Yusuke (Department of Pediatrics, National Defense Medical College (Japó)) ; Friman, Vanda (Department of Infectious Diseases, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg) ; Lundgren, Åsa (Central Hospital (Suècia)) ; Aghamohammadi, Asghar (Tehran University of Medical Sciences) ; Rezaei, Nima (Tehran University of Medical Sciences) ; Hernández-Gonzalez, Manuel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; von Döbeln, Ulrika (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Truedsson, Lennart (Lund University) ; Hara, Toshiro (Fukuoka Children's Hospital) ; Nonoyama, Shigeaki (National Defense Medical College (Japó)) ; Schwenk, Jochen M. (Kungl. Tekniska högskolan (Suècia)) ; Nilsson, Peter (Kungl. Tekniska högskolan (Suècia)) ; Hammarström, Lennart (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Universitat Autònoma de Barcelona
The clinical outcomes of primary immunodeficiencies (PIDs) are greatly improved by accurate diagnosis early in life. However, it is not common to consider PIDs before the manifestation of severe clinical symptoms. [...]
2020 - 10.3389/fimmu.2020.00455
Frontiers in immunology, Vol. 11 (march 2020)  
6.
669.0 KB Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia : Implications for Genetic Counseling / Rivière, Jacques G.. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Franco-Jarava, Clara (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martínez Gallo, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Aguiló-Cucurull, Aina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Blasco-Pérez, Laura (Hospital Universitari Vall d'Hebron) ; Paramonov, Ida (Hospital Universitari Vall d'Hebron) ; Antolín, María (Hospital Universitari Vall d'Hebron) ; Martín-Nalda, Andrea (Jeffrey Model Foundation Excellence Center) ; Soler-Palacín, Pere (Jeffrey Model Foundation Excellence Center) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
X-linked agammaglobulinemia (XLA) is a clinically and genetically well-defined immunodeficiency and the most common form of agammaglobulinemia. It is characterized by susceptibility to recurrent bacterial infections, profound hypogammaglobulinemia, and few or no circulating B cells. [...]
2020 - 10.3389/fimmu.2020.00046
Frontiers in immunology, Vol. 11 (february 2020)  
7.
7 p, 203.4 KB Cytokine Hemoadsorption as Rescue Therapy for Critically Ill Patients With SARS-CoV-2 Pneumonia With Severe Respiratory Failure and Hypercytokinemia / Ruiz-Rodríguez, Juan Carlos (Universitat Autònoma de Barcelona. Departament de Medicina) ; Chiscano-Camón, Luis (Universitat Autònoma de Barcelona. Departament de Medicina) ; Ruiz-Sanmartin, Adolf (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Palmada, Clara (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Paola Plata-Menchaca, Erika (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Franco-Jarava, Clara (Hospital Universitari Vall d'Hebron) ; Pérez-Carrasco, Marcos (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Hernández-González, Manuel (Hospital Universitari Vall d'Hebron) ; Ferrer, Ricard (Universitat Autònoma de Barcelona. Departament de Medicina)
Introduction: A dysregulated inflammatory response, known as "cytokine storm", plays an important role in the pathophysiology of coronavirus 2019 disease (COVID-19). Identifying patients with a dysregulated inflammatory response and at high risk for severe respiratory failure, organ dysfunction, and death is clinically relevant, as they could benefit from the specific therapies, such as cytokine removal by hemoadsorption. [...]
2022 - 10.3389/fmed.2021.779038
Frontiers in Medicine, Vol. 8 (january 2022)  
8.
14 p, 3.9 MB Immunological and genetic kinetics from diagnosis to clinical progression in chronic lymphocytic leukemia / Jiménez, Isabel (Universitat Autònoma de Barcelona. Departament de Medicina) ; Tazón-Vega, Bárbara (Universitat Autònoma de Barcelona. Departament de Medicina) ; Abrisqueta, Pau (Universitat Autònoma de Barcelona. Departament de Medicina) ; Nieto Sáchica, Juan Camilo (Universitat Autònoma de Barcelona. Departament de Medicina) ; Bobillo, Sabela (Universitat Autònoma de Barcelona. Departament de Medicina) ; Palacio-García, Carles (Universitat Autònoma de Barcelona. Departament de Medicina) ; Carabia, Júlia (Universitat Autònoma de Barcelona. Departament de Medicina) ; Valdés-Mas, Rafael (DREAMgenics) ; Munuera, Magdalena (Universitat Autònoma de Barcelona. Departament de Medicina) ; Puigdefàbregas, Lluís (Universitat Autònoma de Barcelona. Departament de Medicina) ; Parra, Genís (Universitat Pompeu Fabra) ; Esteve-Codina, Anna (Universitat Pompeu Fabra) ; Franco-Jarava, Clara (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Iacoboni, Gloria (Universitat Autònoma de Barcelona. Departament de Medicina) ; Terol, María José (Instituto de Investigación Sanitaria INCLIVA (València, Comunitat Valenciana)) ; García-Marco, José Antonio (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ; Crespo, Marta (Universitat Autònoma de Barcelona. Departament de Medicina) ; Bosch José, Francesc Xavier 1947- (Vall d'Hebron Institut d'Oncologia)
Mechanisms driving the progression of chronic lymphocytic leukemia (CLL) from its early stages are not fully understood. The acquisition of molecular changes at the time of progression has been observed in a small fraction of patients, suggesting that CLL progression is not mainly driven by dynamic clonal evolution. [...]
2021 - 10.1186/s40364-021-00290-z
Biomarker Research, Vol. 9 (may 2021)  
9.
0 p, 658.9 KB Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing : Expected and Unexpected Findings / Rudilla, Francesc (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Franco-Jarava, Clara (Jeffrey Model Foundation Excellence Center) ; Martínez Gallo, Mónica (Jeffrey Model Foundation Excellence Center) ; Garcia-Prat, Marina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Rivière, Jacques (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Aguiló-Cucurull, Aina (Jeffrey Model Foundation Excellence Center) ; Mongay, Laura (Banc de Sang i Teixits) ; Vidal, Francisco (Instituto de Salud Carlos III) ; Solanich, Xavier (Hospital Universitari de Bellvitge) ; Irastorza, Iñaki (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Santos-Pérez, Juan Luis (Hospital Universitario Virgen de las Nieves (Granada)) ; Tercedor Sánchez, Jesús (Hospital Universitario Virgen de las Nieves (Granada)) ; Cusco, Ivon (Hospital Universitari Vall d'Hebron) ; Serra, Clara (Hospital Universitari Vall d'Hebron) ; Baz-Redón, Noelia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Fernández Cancio, Mónica (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Carreras, Carmen (Hospital Universitari i Politècnic La Fe (València)) ; Vagace, Manuel (Complejo Hospitalario Universitario de Badajoz) ; García-Patos Briones, Vicente (Hospital Universitari Vall d'Hebron) ; Pujol-Borrell, Ricardo (Jeffrey Model Foundation Excellence Center) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
Primary immunodeficiencies (PIDs) refer to a clinically, immunologically, and genetically heterogeneous group of over 350 disorders affecting development or function of the immune system. The increasing use of next-generation sequencing (NGS) technology has greatly facilitated identification of genetic defects in PID patients in daily clinical practice. [...]
2019 - 10.3389/fimmu.2019.02325
Frontiers in immunology, Vol. 10 (january 2019) , p. 2325  

Research literature 1 records found  
1.
138 p, 4.3 MB Clinical and molecular characterization of Factor I and C5 complement deficiencies : from diagnosis to pupulation studies / Franco-Jarava, Clara ; Hernández González, Manuel, , dir. ; Colobrán Oriol, Roger, dir. ; Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia
El Sistema de Complemento es una parte de la respuesta inmune humoral que, entre otras funciones, se encarga de la defensa frente a patógenos y eliminación de inmunocomplejos. Está compuesto por más de treinta proteínas solubles y unidas a membrana, que se activan en forma de cascada proteolítica para poder ejercer su función. [...]
The Complement System is a part of the humoral immune response that, among other functions, is responsible for the defense against pathogens and elimination of immune complexes. It is composed of more than thirty soluble and membrane-bound proteins, which are activated as a proteolytic cascade to be able to exert their function. [...]

[Barcelona] : Universitat Autònoma de Barcelona, 2017.  

Interested in being notified about new results for this query?
Set up a personal email alert or subscribe to the RSS feed.