Assessment of the gene mosaicism burden in blood and its implications for immune disorders

מאת Solís-Moruno, Manuel, Mensa-Vilaró, Anna, Batlle-Masó, Laura, Lobón, Irene, Bonet, Núria, Marquès-Bonet, Tomàs, Aróstegui, Juan I., Casals, Ferran
הוצא לאור ב Sci Rep (2021)

Somatic NOD2 mosaicism in Blau syndrome

מאת de Inocencio, Jaime, Mensa-Vilaro, Anna, Tejada-Palacios, Pilar, Enriquez-Merayo, Eugenia, González-Roca, Eva, Magri, Giuliana, Ruiz-Ortiz, Estibaliz, Cerutti, Andrea, Yague, Jordi, Aróstegui, Juan I.
הוצא לאור ב J Allergy Clin Immunol (2015)

Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism—UK Single Center Experience

מאת Rowczenio, Dorota M., Gomes, Sónia Melo, Aróstegui, Juan I., Mensa-Vilaro, Anna, Omoyinmi, Ebun, Trojer, Hadija, Baginska, Anna, Baroja-Mazo, Alberto, Pelegrin, Pablo, Savic, Sinisa, Lane, Thirusha, Williams, Rene, Brogan, Paul, Lachmann, Helen J., Hawkins, Philip N.
הוצא לאור ב Front Immunol (2017)

A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of Pyrin and distinction to Familial Mediterranean Fever

מאת Moghaddas, Fiona, Llamas, Rafael, De Nardo, Dominic, Martinez-Banaclocha, Helios, Martinez-Garcia, Juan J., Mesa-del-Castillo, Pablo, Baker, Paul J., Gargallo, Vanessa, Mensa-Vilaro, Anna, Canna, Scott, Wicks, Ian P., Pelegrin, Pablo, Arostegui, Juan I., Masters, Seth L.
הוצא לאור ב Ann Rheum Dis (2017)

Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis

מאת Rabionet, Raquel, Remesal, Agustín, Mensa-Vilaró, Anna, Murías, Sara, Alcobendas, Rosa, González-Roca, Eva, Ruiz-Ortiz, Estibaliz, Antón, Jordi, Iglesias, Estibaliz, Modesto, Consuelo, Comas, David, Puig, Anna, Drechsel, Oliver, Ossowski, Stephan, Yagüe, Jordi, Merino, Rosa, Estivill, Xavier, Arostegui, Juan I.
הוצא לאור ב Sci Rep (2019)

Molecular genetic investigation, clinical features, and response to treatment in 21 patients with Schnitzler syndrome

מאת Rowczenio, Dorota M., Pathak, Shelly, Arostegui, Juan I., Mensa-Vilaro, Anna, Omoyinmi, Ebun, Brogan, Paul, Lipsker, Dan, Scambler, Thomas, Owen, Roger, Trojer, Hadija, Baginska, Anna, Gillmore, Julian D., Wechalekar, Ashutosh D., Lane, Thirusha, Williams, Rene, Youngstein, Taryn, Hawkins, Philip N., Savic, Sinisa, Lachmann, Helen J.
הוצא לאור ב Blood (2018)

Methylprednisolone Pulses Plus Tacrolimus in Addition to Standard of Care vs. Standard of Care Alone in Patients With Severe COVID-19. A Randomized Controlled Trial

מאת Solanich, Xavier, Antolí, Arnau, Rocamora-Blanch, Gemma, Padullés, Núria, Fanlo-Maresma, Marta, Iriarte, Adriana, Mitjavila, Francesca, Capdevila, Olga, Riera-Mestre, Antoni, Bas, Jordi, Vicens-Zygmunt, Vanesa, Niubó, Jordi, Calvo, Nahum, Bolivar, Santiago, Rigo-Bonnin, Raúl, Mensa-Vilaró, Anna, Arregui, Laura, Tebe, Cristian, Videla, Sebastià, Hereu, Pilar, Corbella, Xavier
הוצא לאור ב Front Med (Lausanne) (2021)

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations

מאת 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.
הוצא לאור ב J Clin Immunol (2020)