Proceedings Of The 23Rd Paediatric Rheumatology European Society Congress: Part Two

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

PubMed ID: 29047407

ASSESSING THE CLINICAL RELEVANCE AND RISK MINIMIZATION OF ANTIBODIES TO BIOLOGICS IN JUVENILE IDIOPATHIC ARTHRITIS (JIA) (ABIRISK) - PRELIMINARY RESULTS

Introduction: ABIRISK is a project funded by Innovative Medicine Initiative, with the aim to investigate anti-drug antibody (ADA) formation in the treatment of JIA with biologics (BPs). A major limitation to the use of biologics is the development of ADA that may decrease the efficacy of BPs. Objectives: The aim of this project is to improve the capability to predict biologic immunogenicity in JIA patients. Methods: JIA Patients (by ILAR criteria) followed by 24 PRINTO centres in 12 countries were prospectively enrolled and treated with Etanercept, Adalimumab or Tocilizumab. Patient’s data were obtained from Pharmachild, a pharmacovigilance data registry of JIA patients. For each patient de…

A national cohort study on pediatric Behçet's disease: Cross-sectional data from an Italian registry

Abstract Background Behçet’s disease is a rare multi-systemic inflammatory disease with unknown etiology which involves principally oral and genital mucosa, skin and eyes. Average age at onset of the disease is about 25-30 years, but it may be diagnosed before the age of 16. It is not very rare in Italy, even though there are limited data concerning epidemiology. Aim of this study is to describe the baseline data of an Italian cohort of patients with as having BD or probable BD. Methods We described the baseline data of the first national epidemiological study on children coming from 16 Italian Pediatric Rheumatologic Centers diagnosed by the treating physicians as having Behçet’s Disease. …

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

Significance of I313V mutation of NLPR3 gene in two pediatric patients

Results Both case #1 (M.T) and #2 (V.C) displayed a mild clinical phenotype (episodes of urticarial rash and arthralgia associated with elevation of acute phase reactants), compatible with FCAS and Muckle-Wells syndrome, respectively. Both patients displayed good response to NSAID and/or steroid on demand. Compared to HD controls, patients displayed enhanced and delayed IL1b secretion. This was accompanied by higher levels of lL1Ra and IL-6 without any significant differences in IL-8. Interestingly, parents carrying the mutation also displayed higher levels of secreted IL-1b compared to HD control group. Conclusion The I313V mutation is associated with a mild CAPS phenotype and with an incr…