Hierarchical cluster and survival analyses of antisynthetase syndrome: phenotype and outcome are correlated with anti-tRNA synthetase antibody specificity.

The clinical phenotype and evolution of antisynthetase syndrome (ASS) are heterogeneous. This study was therefore undertaken to identify subgroups of ASS patients with similar clinico-biological features and outcomes. This retrospective multicentric study included 233 consecutive patients with three different anti-aminoacyl-tRNA-synthetase antibodies (anti-ARS): anti-Jo1 (n=160), anti-PL7 (n=25) and anti-PL12 (n=48).

Positivity for anti-cyclic citrullinated peptide is associated with a better response to abatacept: data from the 'Orencia and Rheumatoid Arthritis' registry.

Objectives: Very limited data are available regarding the efficacy of abatacept (ABA) in real life. The aims of this study were to determine the efficacy of ABA in rheumatoid arthritis and predicting factors of efficacy in common practice.

Methods: The Orencia and Rheumatoid Arthritis" (ORA) prospective registry, promoted by the French Society of Rheumatology, has included 1003 patients with RA.

Tocilizumab in patients with active rheumatoid arthritis and inadequate responses to DMARDs and/or TNF inhibitors: a large, open-label study close to clinical practice.

Objective: To evaluate the safety and efficacy of tocilizumab in clinical practice in patients with rheumatoid arthritis (RA) with inadequate responses (IR) to disease-modifying antirheumatic drugs (DMARDs) or both DMARDs and tumour necrosis factor α inhibitors (TNFis).

Methods: Patients-categorised as TNFi-naive, TNFi-previous (washout) or TNFi-recent (no washout) -received open-label tocilizumab (8 mg/kg) every 4 weeks ± DMARDs for 24 weeks. Adverse events (AEs) and treatment discontinuations were monitored.

Brief report: candidate gene study in systemic sclerosis identifies a rare and functional variant of the TNFAIP3 locus as a risk factor for polyautoimmunity.

Objective: Systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) share some pathophysiologic bases as evidenced by individual and familial polyautoimmunity and common susceptibility genetic factors. With regard to the latter, there has been a recent shift from the "common variant" to the "rare variant" paradigm, since rare variants of TNFAIP3 and TREX1 with large effect sizes have recently been discovered in SLE. The present study was undertaken to investigate whether rare variants of TNFAIP3 and TREX1 are also associated with SSc.

Independent replication and meta analysis of association studies establish TNFSF4 as a susceptibility gene preferentially associated with the subset of anticentromere-positive patients with systemic sclerosis.

Objective: Independent replication with large cohorts and metaanalysis of genetic associations are necessary to validate genetic susceptibility factors. The known tumor necrosis factor (ligand) superfamily, member 4 gene (TNFSF4) systemic lupus erythematosus (SLE) risk locus has been found to be associated with systemic sclerosis (SSc) in 2 studies, but with discrepancies between them for genotype-phenotype correlation. Our objective was to validate TNFSF4 association with SSc and determine the subset with the higher risk.

[Diagnostic criteria for Sjögren's syndrome].

Sjödgrens syndrome is a common autoimmune disease with highly variable clinical manifestations, making diagnosis difficult and sometimes delayed. Its specific clinical presentation combines oral and ocular dryness, asthenia and joint involvement. However, visceral involvement and potentially severe complications, including lymphoma, are frequently observed.

Fcγ receptor type IIIA polymorphism influences treatment outcomes in patients with rheumatoid arthritis treated with rituximab.

Objective: To assess the association between a single nucleotide polymorphism in the gene of FCGR3A and the response to treatment with rituximab (RTX) in rheumatoid arthritis (RA).

Methods: SMART is a randomised open trial assessing two strategies of re-treatment in patients responding to 1 g infusion of RTX with methotrexate on days 1 and 15 after failure, intolerance or contraindication to tumour necrosis factor (TNF) blockers. Among the 224 patients included, 111 could be genotyped and were included in an ancillary study of SMART.

Erectile dysfunction is frequent in systemic sclerosis and associated with severe disease: a study of the EULAR Scleroderma Trial and Research group.

Introduction: Erectile dysfunction (ED) is common in men with systemic sclerosis (SSc) but the demographics, risk factors and treatment coverage for ED are not well known.

Method: This study was carried out prospectively in the multinational EULAR Scleroderma Trial and Research database by amending the electronic data-entry system with the International Index of Erectile Function-5 and items related to ED risk factors and treatment. Centres participating in this EULAR Scleroderma Trial and Research substudy were asked to recruit patients consecutively.

Rituximab in central nervous system manifestations of patients with primary Sjögren's syndrome: results from the AIR registry.

Objectives: To evaluate the efficacy of rituximab in central nervous system (CNS) manifestations of patients with primary Sjögren's syndrome (pSS).

Methods: Prospective data from patients with pSS and CNS involvement included in the French AutoImmunity and Rituximab registry were analysed. All patients had diffuse white matter T2-weigted hypersignals.

Efficacy and tolerance of infliximab in refractory Takayasu arteritis: French multicentre study.

Objective: To analyse the efficacy and tolerance of infliximab in refractory Takayasu arteritis (TA).

Methods: French multicentre retrospective study that included patients with TA. Clinical disease activity was defined as new vascular and/or constitutional signs.

Efficacy of vinblastine in central nervous system Langerhans cell histiocytosis: a nationwide retrospective study.

Background: Vinblastine (VBL) is the standard treatment for systemic Langerhans cell histiocytosis (LCH), but little is known about its efficacy in central nervous system (CNS) mass lesions.

Methods: A retrospective chart review was conducted. Twenty patients from the French LCH Study Group register met the inclusion criteria.

Blood memory B cells are disturbed and predict the response to rituximab in patients with rheumatoid arthritis.

Objective: To examine blood B cell subsets in patients with rheumatoid arthritis (RA) prior to B cell depletion therapy and to assess their potential as predictors of clinical response to rituximab (RTX).

Methods: Blood B cell subsets were assessed by flow cytometry in 208 RA patients included in an RTX retreatment study (assessed prior to RTX treatment) and in 47 age-matched controls. Expression of BAFF receptor (BAFF-R) on B cells and serum B cell biomarkers was also measured.

Total knee arthroplasty in severe haemophilic patients under continuous infusion of clotting factors.

Purpose: Haemophilic arthropathy is painful, invalidating and destructive. Authors report a prospective study of total knee arthroplasties in patients with severe haemophilia under continuous infusion of clotting factors. The purpose is to evaluate the benefits of continuous infusion of clotting factors regarding long-term functional improvement and radio-clinical results.

TLR2 expression is regulated by microRNA miR-19 in rheumatoid fibroblast-like synoviocytes.

Resident cells, such as fibroblast-like synoviocytes (FLS), play a crucial role in rheumatoid arthritis (RA). They are implicated in the inflammatory response and play a key role in osteoarticular destruction. Moreover, RA FLS spread RA to unaffected joints.

Whipple limbic encephalitis.

Objective: To describe a relapse of Whipple disease revealed by isolated limbic encephalitis with no other signs of systemic involvement.

Design: Case report.

Setting: University Hospital of Strasbourg, Strasbourg, France.

Efficacy and safety of rituximab in the treatment of refractory inflammatory myopathies in adults: results from the AIR registry.

Objectives: To assess the efficacy and safety of rituximab (RTX) in patients with refractory idiopathic inflammatory myopathies (IIMs).

Methods: RTX efficacy was based on improvement in three criteria: creatine phosphokinase (CPK) level, daily CS dose and physicians' opinion. A decrease in CPK level or CS dose was significant if it was >25%.

[Immunological aspects of the antiphospholipid syndrome].

Antiphospholipid antibodies constitute a group of heterogeneous antibodies, which mainly recognize complexes made of proteins and anionic phospholipids. The nature of these complexes is currently better defined, as well as known, the structure of the antiphospholipid antibodies owing to the analysis of the monoclonal forms of these antibodies which were also studied both in terms of their precise specificities and cross-reactivity. However, the origin of these autoantibodies is not clearly understood, as well as the possible link between antiphospholipid antibodies present in healthy individuals, and those observed in autoimmune diseases.

Are immunoglobulin A anti-gliadin antibodies helpful in diagnosing coeliac disease in children younger than 2 years?

The usefulness of immumoglobulin (Ig) A antibodies to gliadin (AGA-IgA) in addition to IgA anti-endomysium and tissue transglutaminase antibodies was evaluated in 4122 children younger than 2 years with a suspicion of coeliac disease (CD). Eight percent (312/4122) displayed IgA anti-endomysium and/or IgA anti-tissue transglutaminase, whereas 2.1% (85/4122) displayed only AGA-IgA.

Association study of 3 rheumatoid arthritis risk loci in systemic sclerosis in European Caucasian population.

Introduction: Accumulating evidences show that shared autoimmunity is critical for the pathogenesis of many inflammatory rheumatic conditions. Specific phenotype could arise from specific genes, and/or combination of genetic factors and environment. Systemic sclerosis (SSc) belongs to connective tissue disorders and recent data have highlighted strong associations with some autoimmunity genes shared with other autoimmune diseases.

Infliximab or rituximab for refractory Wegener's granulomatosis: long-term follow up. A prospective randomised multicentre study on 17 patients.

Objectives: To compare efficacy and tolerance of infliximab versus rituximab to treat refractory Wegener's granulomatosis (WG), and clarify their respective indications.

Methods: Patients with systemic WG refractory to, or intolerant to steroids and consecutive immunosuppressant lines, including oral cyclophosphamide, were randomly assigned to receive infliximab or rituximab and their ongoing regimen. The primary endpoint was partial (PR) or complete remission (CR) at month 12.

Mevalonate kinase deficiency: a survey of 50 patients.

Objective: The goal of this study was to describe the spectrum of clinical signs of mevalonate kinase deficiency (MKD).

Methods: This was a retrospective French and Belgian study of patients identified on the basis of MKD gene mutations.

Results: Fifty patients from 38 different families were identified, including 1 asymptomatic patient.