Repositorio Dspace

Listar por autor "Fabregat, Virginia"

Listar por autor "Fabregat, Virginia"

Ordenar por:Orden:Resultados:

  • Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome 
    Reula, Alfonso-José-Tapiz-i; Cochino, Alexis-Virgil; Martíns, Andreia-L; Angosto-Bazarra, Diego; de-Landazuri, Inaki-Ortiz; Mensa-Vilaro, Anna; Cabral, Marta; Baroja-Mazo, Alberto; Banos, María-C; Lobato-Salinas, Zulema; Fabregat, Virginia; Plaza, Susana; Yague, Jordi; Casals, Ferran; Oliva, Baldomero; Figueiredo, Antonio-E; Pelegrín, Pablo; Arostegui, Juan-I (Springer/Plenum Publishers, 2022-10)
    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 ...
  • Correction to: Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome (Journal of Clinical Immunology, (2022), 42, 7, (1421-1432), 10.1007/s10875-022-01298-2) 
    Reula, Alfonso-José-Tapiz-i; Cochino, Alexis-Virgil; Martins, Andreia-L; Angosto-Bazarra, Diego; de-Landazuri, Iñaki-Ortiz; Mensa-Vilaro, Anna; Cabral, Marta; Baroja-Mazo, Alberto; Baños, María-C; Lobato-Salinas, Zulema; Fabregat, Virginia; Plaza, Susana; Yagüe, Jordi; Casals, Ferran; Oliva, Baldomero; Figueiredo, Antonio-E; Pelegrín, Pablo; Aróstegui, Juan-I (Springer, 2022)
  • First Description of Late-Onset Autoinflammatory Disease Due to Somatic NLRC4 Mosaicism 
    Ionescu, Daniela; Penin-Franch, Alejandro; Mensa-Vilaro, Anna; Castillo, Paola; Hurtado-Navarro, Laura; Molina-López, Cristina; Romero-Chala, Silvia; Plaza, Susana; Fabregat, Virginia; Bujan, Segundo; Marques, Joana; Casals, Ferran; Yague, Jordi; Oliva, Baldomero; Miguel-Fernández-Pereira, Luis; Pelegrín, Pablo; Arostegui, Juan, I (Wiley, 2022-04)
    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 ...
  • Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism 
    Mascaro, José-Manuel; Rodríguez-Pinto, Ignasi; Poza, Gabriela; Mensa-Vilaro, Anna; Fernández-Martín, Julián; Caminal-Montero, Luis; Espinosa, Gerard; Hernández-Rodríguez, José; Diaz, Marina; Rita-Marques, Joana; Sanmarti, Raimon; Castaneda, Santos; Colunga, Dolores; Coto-Hernández, Ruben; Fanlo, Patricia; Elejalde, José-Ignacio; Bujan, Segundo; Figueras, Ignasi; Marco, Francisco-Manuel; Andres, Maríano; Suárez, Silvia; González-García, Andres; Fusta-Novell, Xavier; García-Belando, Clara; Granados, Ana; Fernández-Figueras, María-Teresa; Quilis, Neus; Orriols-Caba, María; Gómez-de-la-Torre, Ricardo; Cid, María-Cinta; Espigol-Frigole, Georgina; Alvarez-Abella, Alba; Labrador, Eztizen; Rozman, María; López-Guerra, Monica; Castillo, Paola; Alamo-Moreno, José-R; González-Roca, Eva; Plaza, Susana; Fabregat, Virginia; Lara, Rocio; Vicente-Rabaneda, Esther-F; Tejedor-Vaquero, Sonia; Magri, Giuliana; Bonet, Nuria; Solis-Moruno, Manuel; Cerutti, Andrea; Fornas, Oscar; Casals, Ferran; Yague, Jordi; Arostegui, Juan, I (BMJ PUBLISHING GROUP, 2023-12)
    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 ...