Marina Begoña Gorroño-Echebarría

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We wished to analyse the frequency of Crohn's disease-linked CARD15 polymorphisms (P268S, R702W, G908R and 1007fs) in a group of Spanish patients with idiopathic uveitis. To this aim, DNA samples were obtained from 111 unrelated patients. P268S, R702W and G908R polymorphisms were detected using TaqMan Genotyping kits (Applied Biosystems), and the 1007fs(More)
OBJECTIVE Endogenous uveitis is a major cause of visual loss mediated by the immune system. The protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene encodes a lymphoid-specific phosphatase that plays a key role in T-cell receptor (TCR) signaling. Two independent functional missense single nucleotide polymorphisms (SNPs) located within the PTPN22(More)
Uveitis is a clinical feature of the Blau syndrome, a disease linked to CARD15 (also referred to as NOD2) mutations. Three main mutations in this gene (R334W, R334Q and L469F) have been reported as Blau syndrome risk factors, a disease that manifests uveitis as one of its clinical features. However, little is known on the involvement of this gene in(More)
OBJECTIVE STAT4 and IL23R loci represent common susceptibility genetic factors in autoimmunity. We decided to investigate for the first time the possible role of different STAT4/IL23R autoimmune disease-associated polymorphisms on the susceptibility to develop non-anterior uveitis and its main clinical phenotypes. METHODS Four functional polymorphisms(More)
Several ocular manifestations have been found in Crohn's disease patients, most often affecting the anterior segment. This paper presents the case of a young woman with pars plana exudates in whom Crohn's disease was later diagnosed. To the authors' knowledge, this is only the second report of Crohn's disease and concomitant pars plana exudates.
PURPOSE To describe a case of meningococcemia with anterior uveitis. METHODS Observational case report. RESULTS A 38-year-old woman developed meningococcal septicemia caused by Neisseria meningitidis type B. During her admission, she had pain in her left eye, inflammatory cells, and a fibrinous exudate in the anterior chamber and multiple posterior(More)
BACKGROUND Large-scale genetic studies have reported several loci associated with specific disorders involving uveitis. Our aim was to identify genetic risk factors that might predispose to uveitis per se, independent of the clinical diagnosis, by performing a dense genotyping of immune-related loci. METHODS 613 cases and 3693 unaffected controls from(More)