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Novel biomarkers from peripheral blood may help characterize pathogenesis and improve disease monitoring and treatment. Objectives: To define protein biomarkers dysregulated in JDM and better understand JDM pathogenesis using novel aptamer-based proteomic technology proteome in a well-characterized JDM cohort. Methods: Unbiased internal discovery and validation analysis was done using broad proteomic analysis of protein targets using SOMAscan assay of slow off-rate modified aptamers SomaLogic, CO which generates simultaneous quantitative results with high sensitivity and reproducibility.

In a discovery cohort, 27 JDM patient sera prevalent cases on variable treatment, average physician global activity or PGA mean 3. Resulting protein targets were subsequently analyzed in validation cohort sera 14 prevalent JDM cases with similar characteristics including MSA distribution vs 9 HC using the same cutoff.


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The top 10 pathways were then manually clustered to minimize protein overlap with at least 1 unique protein per pathway cluster. Exploratory analysis of the same set of significant upregulated proteins in JDM were analyzed for correlation with PGA by Spearman rank test. Results: protein targets met above criteria from the discovery cohort; unique proteins met criteria after analysis in the validation cohort. There were between unique proteins per pathway cluster but many proteins fit into more than 1 pathway cluster. Further analysis by MSA group is ongoing. Conclusion: Broad quantitative proteomic analysis in a well-characterized JDM cohort identifies key differentiating pathway clusters as above in JDM versus HC including many novel proteins, 13 of which have moderate correlation with PGA.

Top upregulated proteins are most commonly associated with type I IFN pathway cluster, with granulocyte-agranulocyte adhesion and diapedesis as the second most common pathway cluster. While in need of confirmation in other cohorts, these proteins identified through a high-throughput screen bring to light new pathways that may be important in JDM.

Disclosure of Interest : H. Biancotto: None Declared, F. Cheung: None Declared, T. Targoff: None Declared, Y. Huang: None Declared, F. Miller: None Declared, R.

Goldbach-Mansky: None Declared, L. Rider: None Declared. Introduction: Because of the large number of common variants or polymorphisms in genes related to hereditary periodic fevers HPF , genetic results often require an high clinical discrimination. The Infevers database is a large international registry of the different variants described for genes associated to autoinflammatory diseases.

Due to the nature of this registry no genotype-phenotype correlation are provided, except for the clinical phenotype of the first patient s described for each mutation. Objectives: Aim of this study was to elaborate a registry of genotype-phenotype correlations derived from the patients with HPF enrolled and validated in the Eurofever registry.

Methods: We created a table for each HPF describing the genotype-phenotype correlations observed in all the patients enrolled in the Eurofever registry. For each mutation or combination, the following items are shown: number of patients, mean age of onset, disease course recurrent or chronic , mean duration of fever episodes, clinical manifestations associated with fever episodes, atypical manifestations, complications and response to treatment. For each HPF, a table with all the variables described has been established.

Conclusion: We provide a useful tool for all the physicians, creating a registry of genotype-phenotype correlation of HPF based on the patients enrolled in the Eurofever registry. This tool is complementary to the Infevers database and will be available at the Eurofever and Infevers websites. Introduction: Next generation sequencing NGS represents a revolution in the field of molecular medicine, and offers a new approach to deciphering the pathogenesis of complex diseases. Paediatric-onset SLE pSLE is a very rare and more severe phenotype than its adult-onset counterpart, and is possibly associated with a greater contribution of genetic aetiological factors.

Methods: We designed an NGS panel comprising genes including proven disease-associated as well as prospective candidate genes, and analysed patients. We identified a family with three affected individuals carrying a previously unreported mutation in IKZF1. We set up functional assays including oligonucleotide pulldown, B cell phosphorylation and deep B cell immunophenotyping by mass cytometry.


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DV in three affected patients in a single family. Functional assays showed that protein stability was not impaired, but DNA-binding was partially impacted. We identified B cell clusters, and unsupervised analysis underlined the wide differences between two monogenic diseases leading to SLE. Introduction: The measurement of the level of disease activity plays a pivotal role in the care of patients with ju-venile idiopathic arthritis JIA.

These cutoff values are ideally suited for pursuing tight disease control in a treat-to-target strategy, with treatment escalation if the desired JADAS score is not reached. However, although cut-offs were validated in a large and multinational cohort of patients, they were developed in a dataset of patients from a single pediatric rheumatology center an partly before the advent of the so-called biologic era. Methods: The EPidemiology, treatment and Outcome of Childhood Arthritis EPOCA study is aimed to obtain information on the frequency of JIA subtypes in different geographic areas, the therapeutic approaches adopted by pediatric rheumatologists practicing in diverse countries or continents, and the disease and health status of children with JIA currently followed worldwide.

More than 9. For the development of cut-offs, patients with oligoarthritis and polyarthritis followed in the 20 Centres with the highest frequency of these 2 subtypes were retained. The obtained values at each centre were then averaged to obtain the prelimary cut-offs for each disease activity state. Results: The cut-offs validation cohorts were made of patients with oligoarthritis from 20 pediatric rheumatology Centres and 1.

Obtained values will be tested in the validation analysis. The preliminary values are higher than currently available cut-offs. There is no targeted treatment available for pSLE. We used non-parametric Mann-Whitney U test and Spearman r for statistical analysis. Both types of IFNs potentiate each other effect on tissues by affecting their reciprocal biological activity. Introduction: One of the open issues for Juvenile Localized Scleroderma JLS is the assessment and monitoring over time of the extent of inflammation and tissue damage.

The lack of reliable and standardized outcome measures has represented, over the years, a significant limitation for both clinical monitoring of the disease and development of therapeutic trials. Secondary aim was to evaluate and compare the sensitivity to change of LoSCAT and thermography over time. Infrared thermography is a non-invasive imaging technique detecting the thermal energy emitted from the skin providing a graphical representation of its distribution on the body surface.

Three examiners with different experience in Paediatric Rheumatology blindly evaluated all patients twice, at baseline and at least three months later. Results: Forty-seven patients lesions entered the study, and 26 79 lesions were reassessed by same examiners with the same modality after 4. In the group of 79 lesions examined twice an improvement for all anatomic sites for both evaluations of the three examiners and thermographic detection was observed.

Moreover, thermographic analysis showed statistically significant correlation in different anatomic sites with domains of erythema, dermal atrophy and subcutaneous atrophy of LoSCAT. LoSCAT is not influenced by the experience of the examiner. Infrared thermography confirms to be a very helpful tool for detecting disease activity and reliable in monitoring lesions over time. Introduction: Juvenile localised scleroderma jlSc is an orphan disease. Most patient respond to treatment ot methotrexate or mycophenolate.

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In case of nonresponse or partial response, based on the promising tocilizumab TOC data of adult systemic sclerosis studies, TOC seems to be a promising option. There is no publication regarding the effectiveness of tocilizumab in jLS. Objectives: To assess the effectivity of TOC in jlSC patients, who had nonresponse or partial response on conventional therapy. Methods: Participants of the pediatric rheumatology email board were asked, if they follow patients with jlSc, who are treated with TOC.

Clinical characteristics and the response to TOC was assessed. Results: Six centers responded to the survey from the email board, with around participants, and reported 11 patients. The mean age of the patients at disease onset was 5. Disease duration at time of the initiation of TOC was In two patients increased extracutaneous activity was the indication, in one increased activity of arthritis and in the other increased activity of the central nervous system involvement. The mean duration of tocilizumab therapy was There were different i. The mean modified Rodnan skin score assessed in 8 patients decreased from the mean value of 9.

A prospective controlled study would be important to prove the seen effect in a controlled way. Rheumatology Oxford , 49 2 Objectives: In this study, we focused on the involvement of p75NTR and its ligand proNGF in regulating inflammatory responses in the inflamed synovia and in synoviocytes of arthritis patients. Osteoarthritis fibroblasts OF and skin fibroblasts SF were used as control.

Conclusion: These preliminary data suggest that the proNGF found in synovial fluids of chronic arthritis patients is produced and released principally by FLS. Inflammatory stimuli further enhances the expression of p75NTR in FLS, creating a vicious circle that amplify the inflammatory response. The BeSt treatment strategy for children with juvenile idiopathic arthritis JIA has not been determined as of today.

The aim of the BeSt for Kids study was to investigate, which of three treatment strategies is most effective and safe, by comparing them directly. The therapeutic target in all arms was inactive disease by rapid reduction of disease activity and repeated monitoring and revision of therapy in case of insufficient response.

We hypothesized that early treatment with etanercept and methotrexate arm 3 , compared to initial monotherapy arm 1 or initial combination therapy with methotrexate and prednisone arm 2 , would lead to significantly earlier clinical inactive disease.