Browsing by Author "Aróstegui Gorospe, Juan Ignacio"

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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 ...
  • Assessing the digenic model in rare disorders using population sequencing data
    Moreno-Ruiz, Nerea; Genomics England Research Consortium; Lao Grueso, Oscar, 1976-; Aróstegui Gorospe, Juan Ignacio; Laayouni, Hafid, 1968-; Casals López, Ferran (Nature Research, 2022)
    An important fraction of patients with rare disorders remains with no clear genetic diagnostic, even after whole-exome or whole-genome sequencing, posing a difficulty in giving adequate treatment and genetic counseling. ...
  • 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-; Lobon Garcia, 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 ...
  • Severe autoinflammatory manifestations and antibody deficiency due to novel hypermorphic PLCG2 mutations
    Martín-Nalda, Andrea; Casals López, Ferran; Gimeno Martínez, Ramón; Pujol Vallverdú, Ramon Maria; Aróstegui Gorospe, Juan Ignacio (SpringerOpen, 2020)
    Autoinflammatory diseases (AIDs) were first described as clinical disorders characterized by recurrent episodes of seemingly unprovoked sterile inflammation. In the past few years, the identification of novel AIDs expanded ...
  • Somatic genetic variation in healthy tissue and non-cancer diseases
    Solís Moruno, Manuel, 1993-; Batlle Masó, Laura, 1993-; Bonet, Núria; Aróstegui Gorospe, Juan Ignacio; Casals López, Ferran (Nature Research, 2023)
    Somatic genetic variants have been studied for several years mostly concerning cancer, where they contribute to its origin and development. It is also clear that the somatic variants load is greater in aged individuals in ...
  • Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism
    Mascaró, Jose Manuel; Tejedor Vaquero, Sonia, 1988-; Magri, Giuliana, 1978-; Cerutti, Andrea, 1965-; Aróstegui Gorospe, Juan Ignacio (BMJ Publishing Group, 2023)
    Background: The vacuoles, E1-enzyme, X linked, autoinflammatory and somatic (VEXAS) syndrome is an adult-onset autoinflammatory disease (AID) due to postzygotic UBA1 variants. Objectives: To investigate the presence of ...

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