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Page 1
Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement.
Lee PY, Davidson BA, Abraham RS, Alter B, Arostegui JI, Bell K, Belot A, Bergerson JRE, Bernard TJ, Brogan PA, Berkun Y, Deuitch NT, Dimitrova D, Georgin-Lavialle SA, Gattorno M, Grimbacher B, Hashem H, Hershfield MS, Ichord RN, Izawa K, Kanakry JA, Khubchandani RP, Klouwer FCC, Luton EA, Man AW, Meyts I, Van Montfrans JM, Ozen S, Saarela J, Santo GC, Sharma A, Soldatos A, Sparks R, Torgerson TR, Uriarte IL, Youngstein TAB, Zhou Q, Aksentijevich I, Kastner DL, Chambers EP, Ombrello AK; DADA2 Foundation. Lee PY, et al. Among authors: arostegui ji. JAMA Netw Open. 2023 May 1;6(5):e2315894. doi: 10.1001/jamanetworkopen.2023.15894. JAMA Netw Open. 2023. PMID: 37256629 Free article. Review.
Early-onset recurrent panniculitis as a phenotype of NLRC4-associated autoinflammatory syndrome: Characterization of pathogenicity of the p.Ser445Pro NLRC4 variant.
Gil-Lianes J, Gariup G, Iranzo-Fernández P, Mensa-Vilaró A, Peñín-Franch A, Hurtado-Navarro L, Pelegrin P, Aróstegui JI. Gil-Lianes J, et al. Among authors: arostegui ji. Australas J Dermatol. 2023 May;64(2):260-267. doi: 10.1111/ajd.14005. Epub 2023 Feb 16. Australas J Dermatol. 2023. PMID: 36797819
Long-Term Visual Outcome of Patients with Blau Syndrome.
Kreps EO, Al Julandani D, Guly CM, Arostegui JI, Dick AD, Ramanan AV. Kreps EO, et al. Among authors: arostegui ji. Ocul Immunol Inflamm. 2024 Jan 5:1-5. doi: 10.1080/09273948.2023.2293922. Online ahead of print. Ocul Immunol Inflamm. 2024. PMID: 38180755
Low-level NRLP3 somatic mosaicism in adult-onset cryopyrin-associated periodic syndrome misdiagnosed as chronic urticaria.
Pesqué D, Mensa-Vilaró A, García-Herrera A, Planella-Fontanillas N, March-Rodríguez Á, Pujol RM, Aróstegui JI, Giménez-Arnau AM. Pesqué D, et al. Among authors: arostegui ji. J Allergy Clin Immunol Pract. 2024 Apr 30:S2213-2198(24)00435-5. doi: 10.1016/j.jaip.2024.04.049. Online ahead of print. J Allergy Clin Immunol Pract. 2024. PMID: 38697474 No abstract available.
Case report: Novel compound heterozygous IL1RN mutations as the likely cause of a lethal form of deficiency of interleukin-1 receptor antagonist.
Urbaneja E, Bonet N, Solis-Moruno M, Mensa-Vilaro A, de Landazuri IO, Tormo M, Lara R, Plaza S, Fabregat V, Yagüe J, Casals F, Arostegui JI. Urbaneja E, et al. Among authors: arostegui ji. Front Immunol. 2024 Apr 5;15:1381447. doi: 10.3389/fimmu.2024.1381447. eCollection 2024. Front Immunol. 2024. PMID: 38646532 Free PMC article.
Disease phenotypes in adult patients with suspected undifferentiated autoinflammatory diseases and PFAPA syndrome: Clinical and therapeutic implications.
Gómez-Caverzaschi V, Yagüe J, Espinosa G, Mayordomo-Bofill I, Bedón-Galarza R, Araújo O, Pelegrín L, Arbelo E, Morales X, Balagué O, Figueras-Nart I, Mascaró JM, Fuertes I, Giavedoni P, Muxí A, Alobid I, Vilaseca I, Cervera R, Aróstegui JI, Mensa-Vilaró A, Hernández-Rodríguez J. Gómez-Caverzaschi V, et al. Among authors: arostegui ji. Autoimmun Rev. 2024 Mar 30:103520. doi: 10.1016/j.autrev.2024.103520. Online ahead of print. Autoimmun Rev. 2024. PMID: 38561135 Review.
Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome.
Ospina Cardona D, Rodriguez-Pinto I, Iosim S, Bonet N, Mensa-Vilaro A, Wong MK, Ho G, Tormo M, Yagüe J, Shon W, Wallace D, Casals F, Beck DB, Abuav R, Arostegui JI. Ospina Cardona D, et al. Among authors: arostegui ji. Rheumatology (Oxford). 2024 Mar 29:keae201. doi: 10.1093/rheumatology/keae201. Online ahead of print. Rheumatology (Oxford). 2024. PMID: 38552317
Pathogenic NLRP3 mutants form constitutively active inflammasomes resulting in immune-metabolic limitation of IL-1β production.
Molina-López C, Hurtado-Navarro L, García CJ, Angosto-Bazarra D, Vallejo F, Tapia-Abellán A, Marques-Soares JR, Vargas C, Bujan-Rivas S, Tomás-Barberán FA, Arostegui JI, Pelegrin P. Molina-López C, et al. Among authors: arostegui ji. Nat Commun. 2024 Feb 6;15(1):1096. doi: 10.1038/s41467-024-44990-0. Nat Commun. 2024. PMID: 38321014 Free PMC article.
Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism.
Mascaro JM, Rodriguez-Pinto I, Poza G, Mensa-Vilaro A, Fernandez-Martin J, Caminal-Montero L, Espinosa G, Hernández-Rodríguez J, Diaz M, Rita-Marques J, Sanmarti R, Castañeda S, Colunga D, Coto-Hernández R, Fanlo P, Elejalde JI, Bujan S, Figueras I, Marco FM, Andrés M, Suárez S, Gonzalez-Garcia A, Fustà-Novell X, Garcia-Belando C, Granados A, Fernandez-Figueras MT, Quilis N, Orriols-Caba M, Gómez de la Torre R, Cid MC, Espígol-Frigolé G, Alvarez-Abella A, Labrador E, Rozman M, Lopez-Guerra M, Castillo P, Alamo-Moreno JR, Gonzalez-Roca E, Plaza S, Fabregat V, Lara R, Vicente-Rabaneda EF, Tejedor-Vaquero S, Magri G, Bonet N, Solis-Moruno M, Cerutti A, Fornas O, Casals F, Yagüe J, Aróstegui JI. Mascaro JM, et al. Among authors: arostegui ji. Ann Rheum Dis. 2023 Dec;82(12):1594-1605. doi: 10.1136/ard-2023-224460. Epub 2023 Sep 4. Ann Rheum Dis. 2023. PMID: 37666646 Free PMC article.
158 results