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MME GENEVIEVE DELPOSEN

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29 articles scientifiques publiés — un praticien à la pointe de la recherche

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RPPS 10002102092

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Top publications · les plus citées

Efficacy and safety of azacitidine for VEXAS syndrome: a large-scale retrospective study from FRENVEX

Blood · 2025

📚 16 citations🎯 RCR 6.08🔓 Open Access📄 PDF gratuit ↗

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Abstract VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a severe monogenic disorder caused by somatic mutations in ubiquitin-like modifier activating enzyme 1 (UBA1), characterized by inflammation, cytopenias, and frequent association with myelodysplastic neoplasms (MDS). Steroid dependence is common, and targeted therapies have demonstrated limited efficacy. Azacitidine (AZA), a hypomethylating agent used in MDS, has shown potential in VEXAS syndrome but data remain limited. This multicenter retrospective study assessed AZA efficacy and safety in 88 patients with genetically confirmed VEXAS syndrome from FRENVEX (French VEXAS study group), 80% meeting World Health Organization 2022 MDS criteria. Inflammatory response rates were 41% at 6 months and 54% at 12 months, regardless of MDS status. A total of 50 (61%) patients achieved inflammatory response, with 70% occurring at 6 months, suggesting a delayed median response. Among responders, relapse-free survival on AZA was 90% at 1 year and 85% at 5 years. Of the 12 responders who discontinued AZA, 9 relapsed after a median of 3.1 years (range, 0.4-5.6), with effective reexposure in 4 of 5 patients. Hematological responses included red blood cell transfusion independence in 65% and platelet improvement in 77% of patients. Molecular response, defined as a ≥25% reduction in UBA1 variant allele frequency (VAF), was observed in 65% of patients, all of whom achieved inflammatory and hematological responses; and VAF dropped to &lt;2% in 43% of cases. Infections (34%) and cytopenias (36%) were common, particularly during the first 3 cycles. This study establishes AZA as an effective therapy for VEXAS syndrome, improving inflammation, cytopenias, and UBA1 clonal burden, warranting larger prospective trials.

Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid

Genetics in medicine : official journal of the American College of Medical Genetics · 2024

📚 8 citations🎯 RCR 1.72🔓 Open Access📄 PDF gratuit ↗

Weighing the benefits and risks of collecting race and ethnicity data in clinical settings for medical artificial intelligence

The Lancet. Digital health · 2025

📚 7 citations🎯 RCR 2.62🔓 Open Access

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MME GENEVIEVE DELPOSEN

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Top publications · les plus citées

Publications scientifiques (29) — classées par pathologie

Transversal19

Génétique3

Revue générale2

Case report / série1

IA en rhumatologie1

Lupus1

Pharmacovigilance1

Revue / méta-analyse1

Vascularites1

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