A PDF file should load here. If you do not see its contents
the file may be temporarily unavailable at the journal website
or you do not have a PDF plug-in installed and enabled in your browser.
Alternatively, you can download the file locally and open with any standalone PDF reader:
http://www.ped-rheum.com/content/pdf/1546-0096-11-S2-P201.pdf
PReS-FINAL-2211: NOD2/CARD15 polymorphisms and clinical features in patients with non-infectious uveitis
Marrani et al. Pediatric Rheumatology
PReS-FINAL-2211: NOD2/CARD15 polymorphisms and clinical features in patients with non-infectious uveitis
E Marrani 2
R Cimaz 2
OM Lucherini 1
R Caputo 0
A Vitale 1
L Cantarini 1
G Simonini 2
0 Pediatric Ophthalmology, Anna Meyer Children Hospital , Florence , Italy
1 Rheumatology, Santa Maria alle Scotte Hospital , Siena , Italy
2 Pediatric Rheumatology, Anna Meyer Children Hospital , Florence , Italy
-
From 20th Pediatric Rheumatology European Society (PReS) Congress
Ljubljana, Slovenia. 25-29 September 2013
Introduction
Non-infectious uveitis represents an heterogeneous
group of immune-mediated disorders affecting both the
uveal tract and the adjacent structures. These diseases
are important in clinical practice because they represent
one of the most common cause of blindness even in the
pediatric age and often require iimmunosuppressive
therapy and a multidisciplinary approach. The aetiology of
these inflammatory conditions remains unknown.
Mutations affecting NOD2/CARD15 gene are responsible for a
rare autosomal-dominant disorder, Blau Syndrome,
which is characterized by the triad of granulomatous
arthritis, skin rashes and uveitis.
Methods
We enrolled 18 patients: 12 pediatric patients followed
at the pediatric hospital Anna Meyer (Florence, Italy)
and 6 patients (5 adults and 1 child) followed at the
Hospital Santa Maria alle Scotte (Siena, Italy). Data
regarding age of onset, type and localization of uveitis,
associated diseases, relapse frequency and complications
were collected and recorded with a customized database.
NOD2 gene was genotyped in all cases. A statistical
analysis has been carried out in order to assess the
relationship between NOD2 variations and phenotype.
1Pediatric Rheumatology, Anna Meyer Children Hospital, Florence, Italy
Full list of author information is available at the end of the article
Results
NOD2/CARD15 gene variants have been identified in 12
patients: 9 patients showed the polymorphism P268S/
SNP5 as heterozygous carriers while 2 patients were
homozygous for the same polymorphism. One patient
carried two different mutations: the polymorphism
P268S/SNP5 in heterozygous and a mutation on intron
3 (c647 18-16 TCT).
We tried to assess if the two genetic variants, identified
in our cohort of patients, could impact the clinical course
of the disease but we failed to show any associations.
Conclusion
Our preliminary results suggest that NOD2 variants,
except for the Blau related ones, are not implicated in
the pathogenesis of uveitis, either idiophatic or
associated with other diseases. To our knowledge, this is the
first report on the relationship between NOD2 gene and
the phenotype of patients affected by uveitis.
Disclosure of interest
None declared.
(...truncated)