English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/75903
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE
Exportar a otros formatos:


Anakinra in mutation-negative CINCA syndrome

AuthorsCallejas-Rubio, J. L.; Oliver, Francisco Javier; Martín, J.; Ortego-Centeno, N.
Issue Date2007
CitationClinical Rheumatology 26: 576- 577 (2007)
AbstractChronic infantile neurological cutaneous articular (CINCA) syndrome is a rare congenital inflammatory disorder with variable clinical manifestations but devastating in a great majority of the cases. The syndrome is characterized by a generalized, wandering palpable rash eruption of neonatal onset, chronic arthropathy characterized by abnormal proliferation of cartilage and an abnormal ossification, and a progressive neurological impairment as the result of a chronic meningitis caused by polymorphonuclear cell infiltration [1, 2]. Nevertheless, many other manifestations are described, including fever, generalized lymphadenopathy, hepatosplenomegaly, developmental retardation, hydrocephalus, cerebral atrophy, ocular involvement in the form of uveitis and papilitis, and perceptive deafness. Recently, the syndrome has been associated with mutations in the CIAS1 gene [3]. These mutations will imply a higher level of interleukin-1 (IL-1) and a good response with the recombinant human IL-1 receptor antagonist anakinra [4, 5]. Nevertheless, CINCA syndrome has not always been associated with CIAS1 mutations, but in these cases, patients can also respond well to the treatment with anakinra [6], as in the case of the patient we present.
Identifiersdoi: 10.1007/s10067-005-0168-z
issn: 0770-3198
Appears in Collections:(IPBLN) Artículos
Files in This Item:
File Description SizeFormat 
accesoRestringido.pdf15,38 kBAdobe PDFThumbnail
Show full item record
Review this work

WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.