A5039763328- Inflammasome and immune disorders
- Genetic Syndromes and Imprinting
- Gout, Hyperuricemia, Uric Acid
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- IL-33, ST2, and ILC Pathways
- Autoimmune and Inflammatory Disorders Research
- Eosinophilic Disorders and Syndromes
- Epigenetics and DNA Methylation
- Prenatal Screening and Diagnostics
- Immune Cell Function and Interaction
- Immunodeficiency and Autoimmune Disorders
- interferon and immune responses
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Genomics and Chromatin Dynamics
- Heat shock proteins research
- Autism Spectrum Disorder Research
- Urticaria and Related Conditions
- Dermatological and Skeletal Disorders
- Genomics and Rare Diseases
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Hematological disorders and diagnostics
- Autoimmune and Inflammatory Disorders
- Chromosomal and Genetic Variations
- Digestive system and related health
Hôpital Cochin
2015-2025
Assistance Publique – Hôpitaux de Paris
2014-2025
Université Paris Cité
2013-2025
Inserm
2000-2025
Sorbonne Université
2007-2025
Sorbonne Paris Cité
2024
Cochin University of Science and Technology
2022
John Wiley & Sons (United Kingdom)
2019
Hudson Institute
2019
Institut Cochin
2001-2016
The Infevers database (http://fmf.igh.cnrs.fr/infevers/) was established in 2002 to provide investigators with access a central source of information about all sequence variants associated periodic fevers: Familial Mediterranean fever (FMF), TNF Receptor Associated Periodic Syndrome (TRAPS), Hyper IgD (HIDS), Cold Autoinflammatory Syndrome/Muckle-Wells Syndrome/Chronic Infantile Neurological Cutaneous and Articular (FCAS/MWS/CINCA). prototype this group disorders is FMF, recessive disease...
Infevers (Internet Fevers; http://fmf.igh.cnrs.fr/ISSAID/infevers), a website dedicated to mutations responsible for hereditary autoinflammatory diseases, was created in 2002 and has continued evolve. This new version includes eight genes; six were already present: MEFV, MVK, TNFRSF1A, NLRP3, NOD2, PSTPIP1, two are new, LPIN2 NLRP7. Currently, contains over 540 sequence variants. Several database functions recently instituted. The now accepts confidential data complex alleles. For each gene,...
The goal of this study was to describe the spectrum clinical signs mevalonate kinase deficiency (MKD).This a retrospective French and Belgian patients identified on basis MKD gene mutations.Fifty from 38 different families were identified, including 1 asymptomatic patient. Symptoms began during first 6 months life in 30 (60%) before age 5 years 46 (92%). consisted febrile diarrhea and/or rash 23 35 (66%). Febrile attacks mostly associated with lymphadenopathy (71%), (69%), joint pain (67%),...
Background Cryopyrin-associated periodic syndromes (CAPS) consist of a continuum autoinflammatory diseases caused by defect in interleukin 1β regulation. Although symptoms may vary widely, the discovery, 2001, gene involved ( NLRP3 ) has dramatically helped diagnosis. Objectives To define spectrum and prevalence mutations France to delineate initial criteria before molecular analysis. Methods Retrospective review (2001–9) genetic analysis data request forms patients living with an mutation...
NLRP3-associated autoinflammatory disease is a heterogenous group of monogenic conditions caused by NLRP3 gain-of-function mutations. The poor functional characterization most variants hinders diagnosis despite efficient anti-IL-1 treatments. Additionally, while controlled priming and activation signals, gain-of-functions have only been investigated in response to priming. Here, we characterize 34 vitro, evaluating their activity upon induction, priming, and/or sensitivity four inhibitors....
Objective. The hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) was originally defined by the presence of a high serum level immunoglobulin associated with recurrent fever. Since discovery mevalonate kinase gene (MVK) encoding enzyme, most patients clinical diagnostic HIDS are now found to have deficiency based on metabolic genetic data. We aimed asses value IgD for diagnosis in cohort phenotype fever, characterize without mutation. Methods. Main biological data 50 who presented...
Mevalonic aciduria is a rare, inborn error of isoprene biosynthesis characterized by severe, periodic attacks fever and inflammation, developmental delay, ataxia, dysmorphic features. This autosomal recessive disease caused mutation in the mevalonate kinase gene that severely reduces activity. A 3-year-old boy with mevalonic whose condition had failed to improve antiinflammatory treatment underwent allogeneic bone marrow transplantation from an HLA-identical sister who was heterozygous...
The number of genes associated with autism is increasing, but few studies have been performed on epidemiological cohorts and in isolated populations. Here, we investigated 357 individuals from the Faroe Islands including 36 autism, 136 their relatives 185 non-autism controls. Data SNP array whole exome sequencing revealed that had a higher burden rare exonic copy-number variants altering (deletions (p = 0.0352) or duplications 0.0352)), inbreeding status 0.023) load homozygous deleterious...
Abstract Muckle‐Wells syndrome (MWS) is a dominantly inherited autoinflammatory disease characterized by rashes, fever, arthralgia, sensorineural deafness, and the possible development of systemic AA amyloidosis. We used anakinra to treat 22‐year‐old patient with MWS who had deafness high serum level C‐reactive protein (CRP). Following treatment anakinra, patient's CRP normalized, she recovered from deafness. The fact that this occurrence has never been previously reported strengthens role...
Hyperimmunoglobulinemia D is the less severe form of mevalonate kinase deficiency (MKD) caused by recessive inherited mutation in gene. characterized febrile attacks, often associated with transient digestive manifestations, such as abdominal pain, diarrhea, and vomiting. Here we report for first time 2 patients MKD revealed neonatal colitis. Both had chronic bloody diarrhea failure to thrive; 1 patient since age month other 12 days. Total parenteral nutrition was required. A marked...
Background: The hyper-IgD and periodic fever syndrome (HIDS) is characterized by recurrent attacks of fever, abdominal distress, arthralgia caused mevalonate kinase mutations. Objective: To ascertain the role usefulness molecular diagnosis in HIDS. Design: Cross-sectional study. Setting: international Nijmegen HIDS registry. Patients: 54 patients from 41 families who met clinical criteria for Measurements: Clinical symptoms signs, immunoglobulin concentration, leukocyte count, erythrocyte...
Muckle-Wells syndrome (MWS) and familial cold autoinflammatory (FCAS) are rare periodic fevers associated with CIAS1 mutations. A third entity, the chronic infantile neurological, cutaneous, articular (CINCA) was also recently mutation in same gene. phenotypic genotypic continuum seems to exist from most benign severe forms (CINCA). Although a can be two different phenotypes.We report family of three patients exhibiting MWS FCAS phenotypes. These phenotypes were novel missense CIAS1.Anakinra...
Adults with Prader-Willi syndrome (PWS) have an increased proportion of sc fat mass compared body index (BMI)-matched controls, but whether the genotype influences composition and metabolic profile remains controversial.To assess features in adults PWS, according to genetic subtype. In addition, effect previous GH treatment was assessed. Main Outcomes Measures: Body (Dual Energy X-ray Absorptiometry) parameters were PWS (mean age, 25.5 ± 8.9 y) deletion (n = 47) or uniparental disomy (UPD)...
Objective. The hyperimmunoglobulin D syndrome (HIDS) is an autosomal recessive autoinflammatory disease caused by mutations in the mevalonate kinase gene. Our objective was to define a clinical criterion able exclude HIDS without need of genetic testing. Methods. A recursive partitioning algorithm applied derive 149 patients with testing French laboratory, among whom 35 had HIDS. validated 93 Dutch 28 Results. most discriminatory composite satisfied all derivation group [onset age < 5...