A5026145345- Inflammasome and immune disorders
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Autoimmune and Inflammatory Disorders Research
- interferon and immune responses
- IL-33, ST2, and ILC Pathways
- Gout, Hyperuricemia, Uric Acid
- Parathyroid Disorders and Treatments
- Pancreatitis Pathology and Treatment
- Dermatological and Skeletal Disorders
- Viral Infections and Vectors
- Hemoglobinopathies and Related Disorders
- Eosinophilic Disorders and Syndromes
- Kawasaki Disease and Coronary Complications
- Hematological disorders and diagnostics
- Alzheimer's disease research and treatments
- Urticaria and Related Conditions
- Immune Cell Function and Interaction
- Renal Diseases and Glomerulopathies
- Pneumocystis jirovecii pneumonia detection and treatment
- Otitis Media and Relapsing Polychondritis
- IgG4-Related and Inflammatory Diseases
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Infectious Diseases and Tuberculosis
- Autoimmune and Inflammatory Disorders
- Systemic Lupus Erythematosus Research
Hôpital Tenon
2016-2025
Sorbonne Université
2016-2025
Assistance Publique – Hôpitaux de Paris
2016-2025
Centre de Référence des Maladies Autoinflammatoires et des Amyloses
2011-2025
Inserm
2013-2024
Université Paris-Saclay
2024
John Wiley & Sons (United Kingdom)
2023
Groupe de recherche clinique Amylose AA Sorbonne Université
2019-2023
Hudson Institute
2023
Oxfam
2023
NALP proteins, also known as NLRPs, belong to the CATERPILLER protein family involved, like Toll-like receptors, in recognition of microbial molecules and subsequent activation inflammatory immune responses. Current advances function NALPs support recently proposed model a disease continuum bridging autoimmune autoinflammatory disorders. Among these diseases, hereditary periodic fevers (HPFs) are Mendelian disorders associated with sequence variations very few genes; mostly missense...
Hereditary systemic amyloidosis comprises a group of rare monogenic diseases inherited in an autosomal dominant fashion. It is associated with mutations genes encoding eight different proteins, including transthyretin, apolipoprotein AI, AII, lysozyme, fibrinogen A α-chain, cystatin C, gelsolin and beta-2-microglobulin. With support from the EU FP6 EURAMY project we have designed online registry hereditary their clinical phenotypes, view to having single free portal for collection...
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurring attacks of and serositis. It affects primarily North African Jews, Armenians, Turks Arabs, in which a founder effect has been demonstrated. The marenostrin-pyrinencoding gene proposed as candidate for the disease (MEFV), on basis identification putative mutations clustered exon 10 (M680V, M694I, M694V V726A), each segregating with one ancestral haplotype. In search additional MEFV 120 apparently...
Abstract Objective To characterize the frequency, clinical signs, and genotypic features of tumor necrosis factor receptor–associated periodic syndrome (TRAPS) in a series 394 patients various ethnic origins who have recurrent inflammatory syndromes. Methods Sequencing coding region TNFRSF1A gene was performed 128 whom there high suspicion TRAPS, denatured high‐performance liquid chromatography used to systematically screen for 266 with no or only 1 Mediterranean fever ( MEFV ) mutation....
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%),...
Inflammasomes are multiprotein complexes nucleating around an NLR (Nucleotide-binding domain and Leucine-rich Repeat containing protein), which regulate the secretion of pro-inflammatory interleukin (IL)-1β IL-18 cytokines. Monocytes macrophages, main cells expressing inflammasome genes, adapt to their surrounding microenvironment by a phenotypic polarization towards M1 phenotype that promotes inflammation or anti-inflammatory M2 important for resolution inflammation. Despite importance...
Background and objectives: Sickle cell anemia-associated nephropathy is a growing matter of concern because renal failure affects most aging sickle anemia patients. Glomerular damage common feature revealed by microalbuminuria or macroalbuminuria. Although glomerular hyperfiltration has been described for decades in this population, its prevalence young adults unknown. Design, setting, participants, & measurements: To address issue, as well the clinical biologic correlates...
Background Hemoglobin SC disease is one of the most frequent hemoglobinopathies. Surprisingly, few studies have been dedicated to this disease, currently considered be a mild variant homozygous SS disease. The aim study was update our knowledge about hemoglobin disease.Design and Methods involved single center series 179 patients. Clinical biological data were collected with special attention assessment pulmonary arterial hypertension nephropathy.Results diagnosis delayed performed in...
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....
ABSTRACT Background Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, associated with MEFV mutations. FMF patients can experience liver involvement, potentially leading to cirrhosis. Objectives This study aimed evaluate involvement in at a French tertiary centre for adult FMF. Methods We conducted an observational displaying 2 pathogenic mutations National Reference Center Autoinflammatory Diseases and Inflammatory Amyloidosis (CEREMAIA) Paris included...
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...
Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder, for which systemic AA amyloidosis the major complication revealed most of time by renal abnormalities. Current treatment daily colchicine that prevents both recurrent inflammatory attacks and deposition in patients. However, some patients still develop failure. Functional studies suggest interleukin (IL)-1 implicated reaction FMF therefore, IL-1 inhibitors could be a new approach to treat FMF. The aim...
To gain insight into the molecular bases of genetically unexplained periodic fever syndromes (PFS) by screening NLRP12, a gene in which only nonsense and splice site mutation have so far been identified, to assess functional consequences identified missense variation.NLRP12 was screened for mutations direct sequencing. Functional assays were performed HEK 293T cells stably expressing proapoptotic protein ASC procaspase 1, order determine effects normal mutated NLRP12 proteins on speck...