Sophie Georgin‐Lavialle
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View article: Comparative efficacy and safety of anakinra and canakinumab in patients with <scp>VEXAS</scp> syndrome – an international multicenter study
Comparative efficacy and safety of anakinra and canakinumab in patients with <span>VEXAS</span> syndrome – an international multicenter study Open
Objectives The aim of this study was to compare differences in clinical response, drug survival, and adverse event rates between anakinra and canakinumab in VEXAS syndrome. Methods This multicenter international study includes VEXAS patien…
View article: Gut microbiota alterations are linked to COVID-19 severity in North African and European populations
Gut microbiota alterations are linked to COVID-19 severity in North African and European populations Open
View article: Efficacy of erythroid‐stimulating agent and luspatercept in VEXAS syndrome: A multicenter retrospective study by the FRENVEX group
Efficacy of erythroid‐stimulating agent and luspatercept in VEXAS syndrome: A multicenter retrospective study by the FRENVEX group Open
View article: OP0290 SITRAME SYNDROME: INSIGHTS FROM 46 PATIENTS: THE LARGEST COHORT STUDY OF A NOVEL SYSTEMIC AUTOINFLAMMATORY DISEASE
OP0290 SITRAME SYNDROME: INSIGHTS FROM 46 PATIENTS: THE LARGEST COHORT STUDY OF A NOVEL SYSTEMIC AUTOINFLAMMATORY DISEASE Open
View article: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: A comprehensive review of cases across different ethnicities
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: A comprehensive review of cases across different ethnicities Open
The results support a broad global distribution of the disease and highlight the importance of investigating the disease regardless of the patient's origin and ethnicity in cases of compatible symptoms.
View article: Correction: Neurological manifestations in patients with VEXAS syndrome
Correction: Neurological manifestations in patients with VEXAS syndrome Open
View article: Efficacy and safety of azacitidine for VEXAS syndrome: a large-scale retrospective study from FRENVEX
Efficacy and safety of azacitidine for VEXAS syndrome: a large-scale retrospective study from FRENVEX Open
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 freq…
View article: Serum interleukin-18 levels are specifically elevated in auto-inflammatory diseases involving the pyrin inflammasome: A study on 516 patients
Serum interleukin-18 levels are specifically elevated in auto-inflammatory diseases involving the pyrin inflammasome: A study on 516 patients Open
Auto-inflammatory diseases (AIDs) are characterized by excessive activation of innate immunity. Current biomarkers, such as C-reactive protein (CRP) and serum Amyloid A (SAA), are not disease-specific and cannot reflect disease severity. I…
View article: The needed daily dose of colchicine in patients with Familial Mediterranean Fever may be higher in women: a study on behalf of the JIR cohort
The needed daily dose of colchicine in patients with Familial Mediterranean Fever may be higher in women: a study on behalf of the JIR cohort Open
Out of 272 patients, 149 were women (57.8%), with a mean age of 43 years old. The mean weight was 67.8 kg and body mass index 24,2 kg/m². Colchicine was taken by 96% of patients. A subgroup of 30 patients received 2.5 mg/day: they were mos…
View article: How (Ultra‐)Rare Gene Variants Improve Our Understanding of More Common Autoimmune and Inflammatory Diseases
How (Ultra‐)Rare Gene Variants Improve Our Understanding of More Common Autoimmune and Inflammatory Diseases Open
The aim of this study was to explore the impact of rare and ultra‐rare genetic variants on the understanding and treatment of autoimmune and autoinflammatory diseases with a focus on systemic lupus erythematosus (SLE) and Behçet syndrome. …
View article: Worldwide evaluation of Clinical Practice Strategies (CliPS) for lung involvement in Still’s disease within the JIR-CliPS network: a COST action
Worldwide evaluation of Clinical Practice Strategies (CliPS) for lung involvement in Still’s disease within the JIR-CliPS network: a COST action Open
View article: Nonischemic Cardiac Manifestations in VEXAS Syndrome
Nonischemic Cardiac Manifestations in VEXAS Syndrome Open
This case series reports on the clinical presentation, laboratory findings, imaging characteristics, treatments, and outcomes of nonischemic cardiac manifestations in patients with VEXAS syndrome with confirmed pathogenic UBA1 alterations.
View article: Performance of serum IL-18 levels for the follow-up of patients with familial Mediterranean fever
Performance of serum IL-18 levels for the follow-up of patients with familial Mediterranean fever Open
International audience
View article: Iron Deficiency in Familial Mediterranean Fever: A Study on 211 Adult Patients From the <scp>JIR</scp> Cohort
Iron Deficiency in Familial Mediterranean Fever: A Study on 211 Adult Patients From the <span>JIR</span> Cohort Open
View article: VEXAS anemia is a mosaic erythroblastopenia
VEXAS anemia is a mosaic erythroblastopenia Open
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently discovered autoinflammatory disorder linked to somatic mutations in the UBA1 gene, resulting in a profound cytoplasm-restricted defect in ubiquitylation. The di…
View article: A Clinicopathological Description of Kidney Features in VEXAS Syndrome
A Clinicopathological Description of Kidney Features in VEXAS Syndrome Open
View article: EULAR/PReS recommendations for the diagnosis and management of Still's disease, comprising systemic juvenile idiopathic arthritis and adult-onset Still's disease
EULAR/PReS recommendations for the diagnosis and management of Still's disease, comprising systemic juvenile idiopathic arthritis and adult-onset Still's disease Open
View article: Characteristics and outcomes associated with CD2 and CD25 expression on bone marrow mast cells in patients with systemic mastocytosis
Characteristics and outcomes associated with CD2 and CD25 expression on bone marrow mast cells in patients with systemic mastocytosis Open
Not available.
View article: Prevalence estimation of a rare disease with the French National Rare Disease Registry: example of TNF receptor associated periodic syndrome (TRAPS)
Prevalence estimation of a rare disease with the French National Rare Disease Registry: example of TNF receptor associated periodic syndrome (TRAPS) Open
Background rare diseases (RD) have progressively emerged as public health priority in many countries. Epidemiology still presents obstacles and extracting data from public health system remains insufficient. In France, RD database set up i…
View article: Maladies auto-inflammatoires associées à l’IL-18
Maladies auto-inflammatoires associées à l’IL-18 Open
View article: Implication of the LRR Domain in the Regulation and Activation of the NLRP3 Inflammasome
Implication of the LRR Domain in the Regulation and Activation of the NLRP3 Inflammasome Open
The NLRP3 inflammasome is a critical component of the innate immune response. NLRP3 activation is a tightly controlled process involving an initial priming to express NLRP3, pro-IL-1 β, and pro-IL-18, followed by an activation signal. The …
View article: Hydroxychloroquine levels in pregnancy and materno-fetal outcomes in systemic lupus erythematosus patients
Hydroxychloroquine levels in pregnancy and materno-fetal outcomes in systemic lupus erythematosus patients Open
Objectives Data about hydroxychloroquine (HCQ) levels during pregnancy are sparse. We assessed HCQ whole-blood levels at first trimester of pregnancy as a potential predictor of maternal and obstetric/fetal outcomes in patients with system…
View article: Canakinumab treatment real world evidence in 3 monogenic periodic fever syndromes in 2009–2022: an interim analysis using the French JIR cohort database
Canakinumab treatment real world evidence in 3 monogenic periodic fever syndromes in 2009–2022: an interim analysis using the French JIR cohort database Open
Background Our study aimed to provide real-world evidence on the treatment patterns, effectiveness and safety of canakinumab in France in Familial Mediterranean Fever (FMF), Mevalonate Kinase Deficiency (MKD), and Tumor necrosis factor Rec…
View article: Functional diversity of <i>NLRP3</i> gain-of-function mutants associated with CAPS autoinflammation
Functional diversity of <i>NLRP3</i> gain-of-function mutants associated with CAPS autoinflammation Open
NLRP3-associated autoinflammatory disease is a heterogenous group of monogenic conditions caused by NLRP3 gain-of-function mutations. The poor functional characterization of most NLRP3 variants hinders diagnosis despite efficient anti-IL-1…
View article: Diagnosis traps for patients with acquired NLRP3 mutation
Diagnosis traps for patients with acquired NLRP3 mutation Open
International audience
View article: Predictive Clinical and Biological Criteria for Gene Panel Positivity in Suspected Inherited Autoinflammatory Diseases: Insights from a Case–Control Study
Predictive Clinical and Biological Criteria for Gene Panel Positivity in Suspected Inherited Autoinflammatory Diseases: Insights from a Case–Control Study Open
In order to assess the clinical and biological criteria that predict gene panel positivity in patients with a suspected inherited genetic autoinflammatory disease, we conducted a case–control study. These new selection criteria could repla…
View article: Use of covid-19 convalescent plasma to treat patients admitted to hospital for covid-19 with or without underlying immunodeficiency: open label, randomised clinical trial
Use of covid-19 convalescent plasma to treat patients admitted to hospital for covid-19 with or without underlying immunodeficiency: open label, randomised clinical trial Open
Objective To evaluate the efficacy of covid-19 convalescent plasma to treat patients admitted to hospital for moderate covid-19 disease with or without underlying immunodeficiency (CORIPLASM trial). Design Open label, randomised clinical t…
View article: Kidney Transplantation in Patients With AA Amyloidosis: Outcomes in a French Multicenter Cohort
Kidney Transplantation in Patients With AA Amyloidosis: Outcomes in a French Multicenter Cohort Open
View article: Functional diversity of<i>NLRP3</i>gain-of-function mutants associated with CAPS autoinflammation
Functional diversity of<i>NLRP3</i>gain-of-function mutants associated with CAPS autoinflammation Open
NLRP3-associated autoinflammatory disease (NLRP3-AID or CAPS) is an heterogenous group of monogenic autoinflammations associated with NLRP3 gain-of-function mutations. The poor functional characterization of most NLRP3 variants is a barrie…
View article: Revue de la littérature sur les syndromes auto-inflammatoires monogéniques liés aux actinopathies
Revue de la littérature sur les syndromes auto-inflammatoires monogéniques liés aux actinopathies Open