Juan Ignacio Aróstegui

Publicaciones destacadas

• Cryopyrin-associated periodic syndromes in Italian Patients: Evaluation of the rate of somatic NLRP3 mosaicism and phenotypic characterization

  Autores: Lasigliè D; Mensa-Vilaro A; Ferrera D; Caorsi R; Penco F; Santamaria G; Di Duca M; Amico G; Nakagawa K; Antonini F; Tommasini A; Consolini R; Insalaco A; Cattalini M; Obici L; Gallizzi R; Santarelli F; Del Zotto G; Severino M; Rubartelli A; Ravazzolo R; Martini A; Ceccherini I; Nishikomori R; Gattorno M; Arostegui JI; Borghini S.

  Referencia: Journal Of Rheumatology 2017.

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

  Autores: Rowczenio, Dorota M.; Gomes, Sonia Melo; Arostegui, 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.;.

  Referencia: Frontiers In Immunology 2017.

• Late onset cryopyrin-associated periodic syndrome due to myeloid-restricted somatic NLRP3 mosaicism

  Autores: Mensa-Vilaro A, Teresa Bosque M, Magri G, Honda Y, Martínez-Banaclocha H, Casorran-Berges M, Sintes J, González-Roca E, Ruiz-Ortiz E, Heike T, Martínez-Garcia JJ, Baroja-Mazo A, Cerutti A, Nishikomori R, Yagüe J, Pelegrín P, Delgado-Beltran C, Aróstegui JI .

  Referencia: Arthritis & Rheumatology 2016.

• TNF Receptor Associated Periodic Syndrome associated with gonosomal mosaicism of a novel 24 nucleotide TNFRSF1A deletion

  Autores: Rowczenio DM, Trojer H, Omoyinmi E, Aróstegui JI, Arakelov G, Mensa-Vilaro A, Baginska A, Silva Pilorz C, Wang G, Lane T, Brogan P, Hawkins PN, Lachmann HJ .

  Referencia: Arthritis & Rheumatology 2016.

• NOD2 mosaicism in Blau syndrome

  Autores: Mensa-Vilaro A; De Inocencio J; Cham W; Gonzalez-Roca E; Tejada-Palacios P; Tang S; Ruiz-Ortiz E; Enriquez-Merayo E; Lim S; Magri G; Plaza S; Anton M; Cerutti A; Ariffin R; Yagüe J; Arostegui J.

  Referencia: Pediatric Rheumatology 2015.

• Somatic NOD2 mosaicism in Blau syndrome

  Autores: de Inocencio, J; Mensa-Vilaro, A; Tejada-Palacios, P; Enriquez-Merayo, E; Gonzalez-Roca, E; Magri, G; Ruiz-Ortiz, E; Cerutti, A; Yague, J; Arostegui, JI.

  Referencia: Journal Of Allergy And Clinical Immunology 2015.

• Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes

  Autores: Nakagawa, K; Gonzalez-Roca, E; Souto, A; Kawai, T; Umebayashi, H; Campistol, JM; Cañellas, J; Takei, S; Kobayashi, N; Callejas-Rubio, JL; Ortego-Centeno, N; Ruiz-Ortiz, E; Rius, F; Anton, J; Iglesias, E; Jimenez-Treviño, S; Vargas, C; Fernandez-Martin, J; Calvo, I; Hernandez-Rodriguez, J; Mendez, M; Dordal, MT; Basagaña, M; Bujan, S; Yashiro, M; Kubota, T; Koike, R; Akuta, N; Shimoyama, K; Iwata, N; Saito, MK; Ohara, O; Kambe, N; Yasumi, T; Izawa, K; Heike, T; Yague, J; Nishikomori, R; Arostegui, JI.

  Referencia: Annals Of The Rheumatic Diseases 2015.

• Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family

  Autores: Alsina, Laia; Gonzalez-Roca, Eva; Teresa Giner, Maria; Piquer, Monica; Puga, Irene; Pascal, Mariona; Ruiz-Ortiz, Estibaliz; Badell, Isabel; Anunciacion Martin-Mateos, Maria; Cerutti, Andrea; Juan, Manel; Yaguee, Jordi; Plaza, Ana M; Arostegui, Juan I.

  Referencia: Journal Of Allergy And Clinical Immunology 2013.

• High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter collaborative study

  Autores: Tanaka, N; Izawa, K; Saito, MK; Sakuma, M; Oshima, K; Ohara, O; Nishikomori, R; Morimoto, T; Kambe, N; Goldbach-Mansky, R; Aksentijevich, I; de Saint Basile, G; Neven, B; Van Gijn, M; Frenkel, J; Arostegui, JI; Yague, J; Merino, R; Ibanez, M; Pontillo, A; Takada, H; Imagawa, T; Kawai, T; Yasumi, T; Nakahata, T; Heike, T.

  Referencia: Arthritis And Rheumatism 2011.

• A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism unde

  Autores: Arostegui, Juan I; Lopez Saldana, Ma Dolores; Pascal, Mariona; Clemente, Daniel; Aymerich, Marta; Balaguer, Francesc; Goel, Ajay; Fournier del Castillo, Concepcion; Rius, Josefa; Plaza, Susana; Lopez Robledillo, Juan Carlos; Juan, Manel; Ibanez, Mercedes; Yague, Jordi.

  Referencia: Arthritis And Rheumatism 2010.