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Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome.
Tapiz I Reula AJ, Cochino AV, Martins AL, Angosto-Bazarra D, de Landazuri IO, Mensa-Vilaró A, Cabral M, Baroja-Mazo A, Baños MC, Lobato-Salinas Z, Fabregat V, Plaza S, Yagüe J, Casals F, Oliva B, Figueiredo AE, Pelegrín P, Aróstegui JI. Tapiz I Reula AJ, et al. Among authors: yague j. J Clin Immunol. 2022 Oct;42(7):1421-1432. doi: 10.1007/s10875-022-01298-2. Epub 2022 Jun 18. J Clin Immunol. 2022. PMID: 35716229 Free PMC article.
A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?
Aldea A, Campistol JM, Arostegui JI, Rius J, Maso M, Vives J, Yagüe J. Aldea A, et al. Among authors: yague j. Am J Med Genet A. 2004 Jan 1;124A(1):67-73. doi: 10.1002/ajmg.a.20296. Am J Med Genet A. 2004. PMID: 14679589
Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase response.
Aróstegui JI, Solís P, Aldea A, Cantero T, Rius J, Bahíllo P, Plaza S, Vives J, Gómez S, Yagüe J. Aróstegui JI, et al. Among authors: yague j. Eur J Pediatr. 2005 Jan;164(1):13-6. doi: 10.1007/s00431-004-1563-1. Epub 2004 Nov 10. Eur J Pediatr. 2005. PMID: 15549379
Crohn's disease patients carrying Nod2/CARD15 gene variants have an increased and early need for first surgery due to stricturing disease and higher rate of surgical recurrence.
Alvarez-Lobos M, Arostegui JI, Sans M, Tassies D, Plaza S, Delgado S, Lacy AM, Pique JM, Yagüe J, Panés J. Alvarez-Lobos M, et al. Among authors: yague j. Ann Surg. 2005 Nov;242(5):693-700. doi: 10.1097/01.sla.0000186173.14696.ea. Ann Surg. 2005. PMID: 16244543 Free PMC article.
Association of intermittent hydrarthrosis with MEFV gene mutations.
Cañete JD, Aróstegui JI, Queiró R, Sanmartí R, Ballina J, Bosch X, Yagüe J. Cañete JD, et al. Among authors: yague j. Arthritis Rheum. 2006 Jul;54(7):2334-5. doi: 10.1002/art.21923. Arthritis Rheum. 2006. PMID: 16802374 Free article. No abstract available.
220 results