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Christine Serratrice Nesma Bensalah Guillaume Penaranda Nathalie Bardin Nadia Belmatoug Agathe Masseau Christian Rose Olivier Lidove Fabrice Camou François Maillot Vanessa Leguy Nadine Magy-Bertrand Isabelle Marie Patrick Cherin Monia Bengherbia Sebastian Carballo José Boucraut Jacques Serratrice Denis Verrot 《Joint, bone, spine : revue du rhumatisme》2018,85(1):71-77
Objectives
Type 1 Gaucher disease may be related to the presence of autoantibodies. Their clinical significance is questioned.Primary endpoint was to compare the prevalence of autoantibodies in type 1 Gaucher disease patients with healthy subjects, seeking correlations with autoimmune characteristics. Secondary endpoints were to determine whether patients with autoantibodies reported autoimmunity-related symptoms and if genotype, splenectomy or treatment influenced autoantibodies presence.Methods
Type 1 Gaucher disease patients and healthy volunteers were included in this national multicenter exploratory study. Autoantibodies presence was compared in both groups and assessed regarding to genotype, splenectomy, Gaucher disease treatment and autoimmunity-related symptoms.Results
Twenty healthy subjects and 40 type 1 Gaucher disease patients were included. Of the studied group: 15 patients undergone splenectomy, 37 were treated either with enzyme replacement therapy (34) or with substrate reduction therapy (3), 25 were homozygous/heterozygous for the N370S mutation.In type 1 Gaucher disease group (studied group), 52% had positive autoantibodies versus 26% in control group. Antiphospholipid antibodies were more frequent in the studied group (30% vs. 5%), but without correlation to thrombosis, osteonecrosis or bone infarcts. In the studied group, antinuclear antibodies were more frequent (25% vs. 16%). None of the patients with autoantibodies had clinical manifestations of autoimmune diseases. Autoantibodies were not correlated with treatment, genotype, or splenectomy, except for anticardiolipid, more frequent in splenectomized patients.Conclusions
In type 1 Gaucher disease, autoantibodies were more frequent compared to a healthy population. However, they were not associated with an increased prevalence of clinical active autoimmune diseases. 相似文献13.
Carine Salliot Amélie Denis Emmanuelle Dernis Vincent Andre Aleth Perdriger Jean-David Albert Saloua Mammou Mraghni Isabelle Griffoul-Espitalier Mohamed Hamidou Benoit Le Goff Sandrine Jousse Joulin Thierry Marhadour Christophe Richez Nicolas Poursac Estebaliz Lazaro Stéphanie Rist Anca Corondan Clara Quinten Emilie Ducourau 《Joint, bone, spine : revue du rhumatisme》2018,85(6):741-745
Objectives
The aims of this study in SLE population were (1) to describe ultrasonography (US) joint abnormalities, (2) to estimate the reliability of clinical swollen joint count (C-SJC) and SLEDAI (C-SLEDAI) versus US-SJC and US-SLEDAI scores, (3) to highlight specific patterns of lupus patients with Power Doppler (PD) abnormalities.Method
For this cross-sectional multicenter study, 151 consecutive adult SLE patients were recruited. Evaluation included a clinical standardized joint assessment, B-mode and PD US of 40 joints and 26 tendons blinded for clinical examination. Reliability and agreement between clinical and B-mode US were calculated using the intraclass correlation coefficients (ICC [95% Confidence Interval]).Results
We found a very high frequency of subclinical US abnormalities in asymptomatic patients: 85% of patients without joint symptoms had at least 1 US abnormality. Among them 46 patients (87%) had a history of joint involvement. The most frequent abnormalities were joint effusmaions (108 patients), synovial hypertrophy (SH, 109 patients) and synovitis (61 patients). Joint or tendon PD signal (grade > 1) was found in 44% of patients (67/151). Synovitis were mainly located especially on MCPs and wrists. Even if reliability between clinical and grey-scale US SJC assessments was poor, reliability between clinical and US SLEDAI was good. Comparison between SLE patients with and without PD signal did not show any specific SLE pattern.Conclusion
US may be useful to assess joint involvement in SLE patients but did not significantly change SLEDAI score. 相似文献14.
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Markus G. Seidel Katrin Böhm Figen Dogu Austen Worth Adrian Thrasher Benoit Florkin Aydan İkincioğulları Anke Peters Shahrzad Bakhtiar Marie Meeths Polina Stepensky Isabelle Meyts Svetlana O. Sharapova Laura Gámez-Díaz Lennart Hammarström Stephan Ehl Bodo Grimbacher Andrew R. Gennery 《The Journal of allergy and clinical immunology》2018,141(2):770-775.e1
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