Search Results - "Garcia‐Prat, Marina"

Extended immunophenotyping reference values in a healthy pediatric population by Garcia‐Prat, Marina, Álvarez‐Sierra, Daniel, Aguiló‐Cucurull, Aina, Salgado‐Perandrés, Sandra, Briongos‐Sebastian, Sara, Franco‐Jarava, Clara, Martin‐Nalda, Andrea, Colobran, Roger, Montserrat, Isabel, Hernández‐González, Manuel, Pujol‐Borrell, Ricardo, Soler‐Palacin, Pere, Martínez‐Gallo, Mónica

“…Background For the accurate diagnosis of immunodeficiencies is crucial to compare patients’ immunology laboratory values with age‐sex matched controls, yet…”
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Age‐specific pediatric reference ranges for immunoglobulins and complement proteins on the Optilite™ automated turbidimetric analyzer by Garcia‐Prat, Marina, Vila‐Pijoan, Gemma, Martos Gutierrez, Susana, Gala Yerga, Guadalupe, García Guantes, Esther, Martínez‐Gallo, Mónica, Martín‐Nalda, Andrea, Soler‐Palacín, Pere, Hernández‐González, Manuel

“…Background Measurement of immunoglobulins and complement proteins are frontline tests used in the assessment of immune system integrity, and reference values…”
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TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6 by Franco-Jarava, Clara, Wang, Hongying, Martin-Nalda, Andrea, Alvarez, de la Sierra Daniel, García-Prat, Marina, Bodet, Domingo, García-Patos, Vicenç, Plaja, Alberto, Rudilla, Francesc, Rodriguez-Sureda, Victor, García-Latorre, Laura, Aksentijevich, Ivona, Colobran, Roger, Soler-Palacín, Pere

“…There is scarce literature about autoinflammation in syndromic patients. We describe a patient who, in addition to psychomotor and growth delay, presented with…”
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Lifetime Stressful Events Associated with Alzheimer's Pathologies, Neuroinflammation and Brain Structure in a Risk Enriched Cohort by Palpatzis, Eleni, Akinci, Muge, Aguilar‐Dominguez, Pablo, Garcia‐Prat, Marina, Blennow, Kaj, Zetterberg, Henrik, Carboni, Margherita, Kollmorgen, Gwendlyn, Wild, Norbert, Fauria, Karine, Falcon, Carles, Gispert, Juan Domingo, Suárez‐Calvet, Marc, Grau‐Rivera, Oriol, Sánchez‐Benavides, Gonzalo, Arenaza‐Urquijo, Eider M., Peña‐Gómez, Cleofé, Anastasi, Federica, Beteta, Annabella, Brugulat‐Serrat, Anna, Cacciaglia, Raffaele, Cumplido‐Mayoral, Irene, Cañas, Alba, Campo, Marta, Deulofeu, Carme, Cumplido, Irene, Dominguez, Ruth, Emilio, Maria, Fuentes, Sherezade, Genius, Patricia, González‐Escalante, Armand, Hernández, Laura, Huguet, Jordi, Marne, Paula, Menchón, Tania, Minguillon, Carolina, Ortiz, Paula, Pelkmans, Wiesje, Polo, Albina, Pradas, Sandra, Rodríguez‐Fernéndez, Blanca, Sadeghi, Iman, Shekari, Mahnaz, Soteras, Anna, Stankeviciute, Laura, Vilanova, Marc, Vilor‐Tejedor, Natalia

“…Objective Along with the known effects of stress on brain structure and inflammatory processes, increasing evidence suggest a role of chronic stress in the…”
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Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency by 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

“…SASH3 is a lymphoid-specific adaptor protein. In a recent study, SASH3 deficiency was described as a novel X-linked combined immunodeficiency with immune…”
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Evaluation of Cytokine Profile and HLA Association in Benznidazole Related Cutaneous Reactions in Patients With Chagas Disease by Salvador, Fernando, Sánchez-Montalvá, Adrián, Martínez-Gallo, Mónica, Sala-Cunill, Anna, Viñas, Laura, García-Prat, Marina, Aparicio, Gloria, Avilés, Augusto Sao, Artaza, Ma Ángeles, Ferrer, Berta, Molina, Israel

“…Background. Benznidazole is the drug of choice for Chagas disease. The major drawback of this drug is the high adverse events rate, being cutaneous reactions…”
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Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings by 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

“…Primary immunodeficiencies (PIDs) refer to a clinically, immunologically, and genetically heterogeneous group of over 350 disorders affecting development or…”
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LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy by 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

“…LRBA deficiency was first described in 2012 as an autosomal recessive disorder caused by biallelic mutations in the gene (OMIM #614700). It was initially…”
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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 by 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

“…Syndromic immunodeficiencies are a heterogeneous group of inborn errors of immunity that can affect the development of non-immune organs and systems. The…”
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First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain) by Argudo-Ramírez, Ana, Martín-Nalda, Andrea, Marín-Soria, Jose L, López-Galera, Rosa M, Pajares-García, Sonia, González de Aledo-Castillo, Jose M, Martínez-Gallo, Mónica, García-Prat, Marina, Colobran, Roger, Riviere, Jacques G, Quintero, Yania, Collado, Tatiana, García-Villoria, Judit, Ribes, Antonia, Soler-Palacín, Pere

“…Severe combined immunodeficiency (SCID), the most severe form of T-cell immunodeficiency, can be screened at birth by quantifying T-cell receptor excision…”
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CD57 identifies T cells with functional senescence before terminal differentiation and relative telomere shortening in patients with activated PI3 kinase delta syndrome by Cura Daball, Paola, Ventura Ferreira, Monica Sofia, Ammann, Sandra, Klemann, Christian, Lorenz, Myriam R, Warthorst, Ursula, Leahy, Timothy Ronan, Conlon, Niall, Roche, Justin, Soler‐Palacín, Pere, Garcia‐Prat, Marina, Fuchs, Ilka, Fuchs, Sebastian, Beier, Fabian, Brümmendorf, Tim H, Speckmann, Carsten, Olbrich, Peter, Neth, Olaf, Schwarz, Klaus, Ehl, Stephan, Rensing‐Ehl, Anne

“…Premature T‐cell immunosenescence with CD57+ CD8+ T‐cell accumulation has been linked to immunodeficiency and autoimmunity in primary immunodeficiencies…”
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Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications by 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

“…Autoimmune lymphoproliferative syndrome (ALPS) is a rare primary immune disorder characterized by impaired apoptotic homeostasis. The clinical characteristics…”
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Omega‐3 blood biomarkers relate to brain glucose uptake in individuals at risk of Alzheimer's disease dementia by Lázaro, Iolanda, Grau‐Rivera, Oriol, Suárez‐Calvet, Marc, Fauria, Karine, Minguillón, Carolina, Shekari, Mahnaz, Falcón, Carles, García‐Prat, Marina, Huguet, Jordi, Molinuevo, José Luis, Gispert, Juan‐Domingo, Sala‐Vila, Aleix

“…INTRODUCTION Brain glucose hypometabolism is a preclinical feature of Alzheimer's disease (AD). Dietary omega‐3 fatty acids promote brain glucose metabolism,…”
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Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations by Franco-Jarava, Clara, Álvarez de la Campa, Elena, Solanich, Xavier, Morandeira-Rego, Francisco, Mas-Bosch, Virgínia, García-Prat, Marina, de la Cruz, Xavier, Martín-Nalda, Andrea, Soler-Palacín, Pere, Hernández-González, Manuel, Colobran, Roger

“…The complement system is an important effector arm of innate immunity and plays a crucial role in the defense against common pathogens. But effective defense…”
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Challenges in investigating patients with isolated decreased serum IgM: The SIMcal study by Janssen, Lisanne M. A., Hout, Roeland W. N. M., de Vries, Esther, Pignata, Claudio, Cirillo, Emilia, Arkwright, Peter D., Lougaris, Vassilos, Buckland, Matthew, Garcia‐Prat, Marina, d'Hebron, Vall, Soler‐Palacin, Pere, Ouederni, Monia, Kralickova, Pavlina, Abolhassani, Hassan, Hammerstrom, Lennart, Aghamohamamdi, Asghar, Santos‐Pérez, Juan L., Sobh, Ali, van de Werff ten Bosch, Jutte, Henriet, Stefanie, Kilic, Sara S., Karali, Y., Gonzalez‐Granado, Luis Ignacio, Sediva, Anna

“…The clinical consequences of isolated decreased serum immunoglobulin (Ig)M are not sufficiently known. Therefore, it is difficult to determine the clinical…”
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Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening by Martín-Nalda, Andrea, Rivière, Jacques G., Català-Besa, Mireia, García-Prat, Marina, Parra-Martínez, Alba, Martínez-Gallo, Mónica, Colobran, Roger, Argudo-Ramírez, Ana, Marín-Soria, Jose Luis, García-Villoria, Judit, Alonso, Laura, Arranz-Amo, Jose Antonio, la Marca, Giancarlo, Soler-Palacín, Pere

“…Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disorder, resulting in severe combined immunodeficiency. To date, PNP deficiency has been…”
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Newborn Screening for SCID: Experience in Spain (Catalonia) by Argudo-Ramírez, Ana, Martín-Nalda, Andrea, González de Aledo-Castillo, Jose Manuel, López-Galera, Rosa, Marín-Soria, Jose Luis, Pajares-García, Sonia, Martínez-Gallo, Mónica, García-Prat, Marina, Colobran, Roger, Riviere, Jacques G., Quintero, Yania, Collado, Tatiana, Ribes, Antonia, García-Villoria, Judit, Soler-Palacín, Pere

“…Newborn screening (NBS) for severe combined immunodeficiency (SCID) started in Catalonia in January-2017, being the first Spanish and European region to…”
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Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations by Martín-Nalda, Andrea, Fortuny, Claudia, Rey, Lourdes, Bunney, Tom D., Alsina, Laia, Esteve-Solé, Ana, Bull, Daniel, Anton, Maria Carmen, Basagaña, María, Casals, Ferran, Deyá, Angela, García-Prat, Marina, Gimeno, Ramon, Juan, Manel, Martinez-Banaclocha, Helios, Martinez-Garcia, Juan J, Mensa-Vilaró, Anna, Rabionet, Raquel, Martin-Begue, Nieves, Rudilla, Francesc, Yagüe, Jordi, Estivill, Xavier, García-Patos, Vicente, Pujol, Ramon M., Soler-Palacín, Pere, Katan, Matilda, Pelegrín, Pablo, Colobran, Roger, Vicente, Asun, Arostegui, Juan I.

“…Autoinflammatory diseases (AIDs) were first described as clinical disorders characterized by recurrent episodes of seemingly unprovoked sterile inflammation…”
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Health-Related Quality of Life and Multidimensional Fatigue Scale in Children with Primary Immunodeficiencies by Ridao-Manonellas, Saida, Fábregas-Bofill, Anna, Núñez-Rueda, Gloria, González-Amores, Míriam, García-Prat, Marina, López-Seguer, Laura, Rivière, Jacques G., Martín-Nalda, Andrea, Mendoza-Palomar, Natalia, Melendo-Pérez, Susana, Soler-Palacín, Pere

“…Purpose Patients with primary immunodeficiency disease (PID) have an increased risk of experiencing physical activity limitations, social difficulties, and…”
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Lifetime Stressful Events Associated with Alzheimer's Pathologies, Neuroinflammation and Brain Structure in a Risk Enriched Cohort by Palpatzis, Eleni, Akinci, Muge, Aguilar-Dominguez, Pablo, Garcia-Prat, Marina, Blennow, Kaj, Zetterberg, Henrik, Carboni, Margherita, Kollmorgen, Gwendlyn, Wild, Norbert, Fauria, Karine, Falcon, Carles, Gispert, Juan Domingo, Suarez-Calvet, Marc, Grau-Rivera, Oriol, Sanchez-Benavides, Gonzalo, Arenaza-Urquijo, Eider M.

“…Objective: Along with the known effects of stress on brain structure and inflammatory processes, increasing evidence suggest a role of chronic stress in the…”
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