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A20 haploinsufficiency disturbs immune homeostasis and drives the transformation of lymphocytes with permissive antigen receptors.
Schultheiß C, Paschold L, Mohebiany AN, Escher M, Kattimani YM, Müller M, Schmidt-Barbo P, Mensa-Vilaró A, Aróstegui JI, Boursier G, de Moreuil C, Hautala T, Willscher E, Jonas H, Chinchuluun N, Grosser B, Märkl B, Klapper W, Oommen PT, Gössling K, Hoffmann K, Tiegs G, Czernilofsky F, Dietrich S, Freeman A, Schwartz DM, Waisman A, Aksentijevich I, Binder M. Schultheiß C, et al. Among authors: arostegui ji. Sci Adv. 2024 Aug 23;10(34):eadl3975. doi: 10.1126/sciadv.adl3975. Epub 2024 Aug 21. Sci Adv. 2024. PMID: 39167656 Free PMC article.
ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
Shinar Y, Ceccherini I, Rowczenio D, Aksentijevich I, Arostegui J, Ben-Chétrit E, Boursier G, Gattorno M, Hayrapetyan H, Ida H, Kanazawa N, Lachmann HJ, Mensa-Vilaro A, Nishikomori R, Oberkanins C, Obici L, Ohara O, Ozen S, Sarkisian T, Sheils K, Wolstenholme N, Zonneveld-Huijssoon E, van Gijn ME, Touitou I. Shinar Y, et al. Clin Chem. 2020 Apr 1;66(4):525-536. doi: 10.1093/clinchem/hvaa024. Clin Chem. 2020. PMID: 32176780
Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion.
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. Rowczenio DM, et al. Among authors: arostegui ji. Arthritis Rheumatol. 2016 Aug;68(8):2044-9. doi: 10.1002/art.39683. Arthritis Rheumatol. 2016. PMID: 26992170
Excess Serum Interleukin-18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1.
Stone DL, Ombrello A, Arostegui JI, Schneider C, Dang V, de Jesus A, Girard-Guyonvarc'h C, Gabay C, Lee W, Chae JJ, Aksentijevich I, Goldbach-Mansky RT, Kastner DL, Canna SW. Stone DL, et al. Among authors: arostegui ji. Arthritis Rheumatol. 2022 Feb;74(2):353-357. doi: 10.1002/art.41976. Epub 2022 Jan 3. Arthritis Rheumatol. 2022. PMID: 34492165 Free PMC article.
Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center.
Hernández-Rodríguez J, Ruíz-Ortiz E, Tomé A, Espinosa G, González-Roca E, Mensa-Vilaró A, Prieto-González S, Espígol-Frigolé G, Mensa J, Cardellach F, Grau JM, Cid MC, Yagüe J, Aróstegui JI, Cervera R. Hernández-Rodríguez J, et al. Among authors: arostegui ji. Autoimmun Rev. 2016 Jan;15(1):9-15. doi: 10.1016/j.autrev.2015.08.008. Epub 2015 Aug 21. Autoimmun Rev. 2016. PMID: 26299986 Review.
165 results