Juan Ignacio Aróstegui

Publicacions destacades

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

  Autors:

  Lasigliè D; Mensa-Vilaro A; Ferrera D; Caorsi R; Penco F;

  (...)

  Ceccherini I; Nishikomori R; Gattorno M; Arostegui JI; Borghini S.

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  Referència: Journal Of Rheumatology 2017.

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

  Autors:

  Rowczenio, Dorota M.; Gomes, Sonia Melo; Arostegui, Juan I.; Mensa-Vilaro, Anna; Omoyinmi, Ebun;

  (...)

  Lane, Thirusha; Williams, Rene; Brogan, Paul; Lachmann, Helen J.; Hawkins, Philip N.;.

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  Referència: Frontiers In Immunology 2017.

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

  Autors:

  Mensa-Vilaro A; Teresa Bosque M; Magri G; Honda Y; Martínez-Banaclocha H;

  (...)

  Nishikomori R; Yagüe J; Pelegrín P; Delgado-Beltran C; Aróstegui JI .

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  Referència: Arthritis & Rheumatology 2016.

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

  Autors:

  Rowczenio DM; Trojer H; Omoyinmi E; Aróstegui JI; Arakelov G;

  (...)

  Wang G; Lane T; Brogan P; Hawkins PN; Lachmann HJ .

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  Referència: Arthritis & Rheumatology 2016.

• NOD2 mosaicism in Blau syndrome

  Autors:

  Mensa-Vilaro A; De Inocencio J; Cham W; Gonzalez-Roca E; Tejada-Palacios P;

  (...)

  Anton M; Cerutti A; Ariffin R; Yagüe J; Arostegui J.

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  Referència: Pediatric Rheumatology 2015.

• Somatic NOD2 mosaicism in Blau syndrome

  Autors:

  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.

  Referència: 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

  Autors:

  Nakagawa, K; Gonzalez-Roca, E; Souto, A; Kawai, T; Umebayashi, H;

  (...)

  Izawa, K; Heike, T; Yague, J; Nishikomori, R; Arostegui, JI.

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  Referència: Annals Of The Rheumatic Diseases 2015.

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

  Autors:

  Alsina, Laia; Gonzalez-Roca, Eva; Teresa Giner, Maria; Piquer, Monica; Puga, Irene;

  (...)

  Cerutti, Andrea; Juan, Manel; Yaguee, Jordi; Plaza, Ana M; Arostegui, Juan I.

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  Referència: 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

  Autors:

  Tanaka, N; Izawa, K; Saito, MK; Sakuma, M; Oshima, K;

  (...)

  Imagawa, T; Kawai, T; Yasumi, T; Nakahata, T; Heike, T.

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  Referència: 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 underlying mendelian inherited diseases

  Autors:

  Arostegui, Juan I; Lopez Saldana, Ma Dolores; Clemente, Daniel; Balaguer, Francesc; Goel, Ajay;

  Fournier del Castillo, Concepcion; Lopez Robledillo, Juan Carlos; Ibanez, Mercedes.

  Referència: Arthritis And Rheumatism 2010.