Browsing by Author "Mensa Vilaró, Anna"

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  • A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis
    Aróstegui Gorospe, Juan Ignacio; Rabionet, Raquel; Remesal, Agustín; Mensa Vilaró, Anna; Murias, Sara; Alcobendas, Rosa; González-Roca, Eva; Dreschsel, Oliver; Ruíz Ortiz, Estíbaliz; Puig, Anna; Comas, David, 1969-; Ossowski, Stephan; Yagüe, Jordi L.; Estivill, Xavier, 1955-; Merino, Rosa (BioMed Central, 2015)
    We identified a consanguineous Moroccan family with three affected siblings diagnosed with rheumatoid factor-negative polyarticular juvenile idiopathic arthritis. They all suffered from an early-onset (2-4 years-old) chronic ...
  • Assessment of the gene mosaicism burden in blood and its implications for immune disorders
    Solís Moruno, Manuel, 1993-; Mensa Vilaró, Anna; Batlle Masó, Laura, 1993-; Lobón, Irene; Bonet, Núria; Marquès i Bonet, Tomàs, 1975-; Aróstegui Gorospe, Juan Ignacio; Casals López, Ferran (Nature Research, 2021)
    There are increasing evidences showing the contribution of somatic genetic variants to non-cancer diseases. However, their detection using massive parallel sequencing methods still has important limitations. In addition, ...
  • Biallelic loss-of-function LACC1/FAMIN mutations presenting as rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
    Rabionet, Raquel; Remesal, Agustín; Mensa Vilaró, Anna; Murías, Sara; Alcobendas, Rosa; González-Roca, Eva; Ruíz Ortiz, Estíbaliz; Antón, Jordi; Iglesias, Estibaliz; Modesto, Consuelo; Comas, David, 1969-; Puig, Anna; Drechsel, Oliver; Ossowski, Stephan; Yagüe, Jordi L.; Merino, Rosa; Estivill, Xavier, 1955-; Aróstegui Gorospe, Juan Ignacio (Nature Research, 2019)
    Juvenile idiopathic arthritis (JIA) is a complex rheumatic disease with both autoimmune and autoinflammatory components. Recently, familial cases of systemic-onset JIA have been attributed to mutations in LACC1/FAMIN. We ...
  • Characterization of novel pathogenic variants leading to caspase-8 cleavage-resistant RIPK1-induced autoinflammatory syndrome
    Tapiz I Reula, Alfonso José; Cochino, Alexis-Virgil; Martins, Andreia L.; Angosto-Bazarra, Diego; Ortiz de Landazuri, Iñaki; Mensa Vilaró, Anna; Cabral, Marta; Baroja-Mazo, Alberto; Baños, María C.; Lobato-Salinas, Zulema; Fabregat, Virginia; Plaza, Susana; Yagüe, Jordi L.; Casals López, Ferran; Oliva Miguel, Baldomero; Figueiredo, Antonio E.; Pelegrín, Pablo; Aróstegui Gorospe, Juan Ignacio (SpringerOpen, 2022)
    Pathogenic RIPK1 variants have been described as the cause of two different inborn errors of immunity. Biallelic loss-of-function variants cause the recessively inherited RIPK1 deficiency, while monoallelic variants impairing ...
  • First description of late-onset autoinflammatory disease due to somatic NLRC4 mosaicism
    Ionescu, Daniela; Peñín Franch, Alejandro; Mensa Vilaró, Anna; Castillo, Paola; Hurtado Navarro, Laura; Molina-López, Cristina; Romero-Chala, Silvia; Plaza, Susana; Fabregat, Virginia; Buján, Segundo; Marques, Joana; Casals López, Ferran; Yagüe, Jordi L.; Oliva Miguel, Baldomero; Fernández-Pereira, Luis Miguel; Pelegrín, Pablo; Aróstegui Gorospe, Juan Ignacio (Wiley, 2022)
    Objective: Autoinflammatory diseases are inherited disorders of innate immunity that usually start during childhood. However, several recent reports have described an increasing number of patients with autoinflammatory ...
  • Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing
    Batlle Masó, Laura, 1993-; Mensa Vilaró, Anna; Solís Moruno, Manuel, 1993-; Marquès i Bonet, Tomàs, 1975-; Aróstegui Gorospe, Juan Ignacio; Casals López, Ferran (Elsevier, 2020)
    Autoinflammatory diseases comprise a wide range of syndromes caused by dysregulation of the innate immune response. They are difficult to diagnose due to their phenotypic heterogeneity and variable expressivity. Thus, the ...