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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.
Aróstegui JI, Lopez Saldaña MD, Pascal M, Clemente D, Aymerich M, Balaguer F, Goel A, Fournier del Castillo C, Rius J, Plaza S, López Robledillo JC, Juan M, Ibañez M, Yagüe J. Aróstegui JI, et al. Among authors: rius j. Arthritis Rheum. 2010 Apr;62(4):1158-66. doi: 10.1002/art.27342. Arthritis Rheum. 2010. PMID: 20131270 Free article.
NOD2 gene-associated pediatric granulomatous arthritis: clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort.
Aróstegui JI, Arnal C, Merino R, Modesto C, Antonia Carballo M, Moreno P, García-Consuegra J, Naranjo A, Ramos E, de Paz P, Rius J, Plaza S, Yagüe J. Aróstegui JI, et al. Among authors: rius j. Arthritis Rheum. 2007 Nov;56(11):3805-13. doi: 10.1002/art.22966. Arthritis Rheum. 2007. PMID: 17968944 Free 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: rius 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: rius 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
152 results