A5060713458- Mast cells and histamine
- Urticaria and Related Conditions
- Food Allergy and Anaphylaxis Research
- melanin and skin pigmentation
- Skin and Cellular Biology Research
- Drug-Induced Adverse Reactions
- Vascular Malformations and Hemangiomas
- Immunodeficiency and Autoimmune Disorders
- Autoimmune Bullous Skin Diseases
- Dermatology and Skin Diseases
- Asthma and respiratory diseases
- Allergic Rhinitis and Sensitization
- Vascular Malformations Diagnosis and Treatment
- Biotin and Related Studies
- Genetic and rare skin diseases.
- Histiocytic Disorders and Treatments
- Tumors and Oncological Cases
- Nail Diseases and Treatments
- Eosinophilic Disorders and Syndromes
- Dermatological and Skeletal Disorders
- Dermatological diseases and infestations
- Hedgehog Signaling Pathway Studies
- Wnt/β-catenin signaling in development and cancer
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Lymphadenopathy Diagnosis and Analysis
Hôpital Necker-Enfants Malades
2013-2024
Inserm
2023-2024
Institut des Maladies Génétiques Imagine
2020-2024
Assistance Publique – Hôpitaux de Paris
2012-2024
Université Paris Cité
2011-2023
Expression Génétique Microbienne
2020
Université Paris-Est Créteil
2011-2015
Abstract The paradigm type I interferonopathy Aicardi-Goutières syndrome (AGS) is most typically characterized by severe neurological involvement. AGS considered an immune-mediated disease, poorly responsive to conventional immunosuppression. Premised on a chronic enhancement of interferon signaling, JAK1/2 inhibition has been trialed in AGS, with clear improvements cutaneous and systemic disease manifestations. Contrastingly, treatment efficacy at the level system less conclusive. Here, we...
BackgroundMastocytosis and monoclonal mast cell (MC) activation syndrome (MMAS) are heterogeneous conditions characterized by the accumulation of atypical MCs. Despite recurrent involvement KIT mutations, pathophysiologic origin mastocytosis MMAS is unclear. Although hereditary α-tryptasemia (HαT, related to TPSAB1 gene duplication) abnormally frequent in these diseases, it not known whether association coincidental or causal.ObjectiveWe evaluated prevalence HαT all subtypes assessed with...
Abstract Background The concept of individual burden, associated with disease, has been introduced recently to determine the “disability” caused by pathology in broadest sense word (psychological, social, economic, physical). Inherited ichthyosis belong a large heterogeneous group Mendelian Disorders Cornification. Skin symptoms have major impact on patients’ Quality Life but little is known about burden disease families patients. Objectives To develop and validate specific questionnaire for...
Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3), function which still unknown. Our objective this study was to better define specific features POIKTMP through larger series patients. Clinical molecular data two families eight...
Few studies have evaluated the efficacy of carbon dioxide (CO2) laser ablation for treating neurofibromatosis type 1 (NF1).To evaluate treatment safety and patient satisfaction at French National Referral Centre Neurofibromatosis.Retrospective survey with a specific questionnaire. The principal outcome measures included pain evaluation assessments safety.We 106 patients, 70% whom had more than 50 neurofibromas. Laser was performed mostly aesthetic reasons, or due to pain, recurrent local...
Mastocytosis is a heterogeneous group of clinical disorders characterized by the abnormal accumulation mast cells. The adult and paediatric forms differ in their genetic features outcomes.To describe evolution well-characterized cohort mastocytosis (PM), to analyse relationship between KIT mutation course.This was prospective study performed at National Clinical Reference Center for Mastocytosis. Diagnosis confirmed identification on lesional skin biopsy. subtype, cell mediator-related...
To develop and validate a specific questionnaire to assess burden on families of children with infantile haemangioma (IH): the Haemangioma Family Burden (HFB). Items were generated from literature review verbatim report parents. Subsequently, study was implemented at Necker Hospital Pellegrin Children's for psychometric analysis. The HFB refined via item reduction according inter-question correlations, consensus among experts exploratory factor A 20-item questionnaire, grouped into 5...
Mastocytosis is a neoplastic condition characterized by the accumulation of mast cells (MCs) in one or more organs. The can occur childhood adulthood. Most cases pediatric mastocytosis are limited to skin and spontaneously decrease.1 World Health Organization classification distinguishes between three subtypes cutaneous (CM): maculopapular (MPCM), mastocytoma, diffuse (DCM).2-4 Recently, new genetic trait called hereditary alpha-tryptasemia (HαT), which corresponds duplication/amplification...
Abstract Background The notion of individual burden, associated with a disease, has been introduced to determine the ‘disability’ in broadest sense (psychological, social, economic and physical). Atopic dermatitis ( AD ) is one most common chronic inflammatory skin diseases an estimated prevalence 5%–30% children. Objective To develop validate specific questionnaire which assess burden families children : Burden Scale ABS ). Methods Items for inclusion were initially generated from...
Systemic mastocytosis (SM) corresponds to a rare and heterogeneous spectrum of diseases characterized by the accumulation atypical mast cells (MCs). Advanced (Adv-SM) is associated with poor survival; in contrast, patients non-advanced SM (non-Adv-SM) usually have normal life expectancy but may experience quality life. Despite recent therapeutic progress including tyrosine kinase inhibitors, new treatment options are needed for refractory and/or intolerant both severely symptomatic Adv-SM....
Not available.
Abstract Background and Aims Systemic mastocytosis (SM) is characterized by the accumulation of atypical mast cells (MCs) in organs. Liver histology SM has been marginally described accurate histological classification critical, given consequences aggressive diagnosis. We aimed to describe features associated with liver using updated tools. Methods Using database French Reference Centre for Mastocytosis, we retrospectively identified patients a biopsy (LB) diagnosis SM. All LB procedures...
Abstract Advanced systemic mastocytosis (AdvSM) encompasses heterogeneous subtypes and is associated with poor outcomes. Although midostaurin was the first tyrosine kinase inhibitor to be approved for AdvSM patients, long‐lasting responses are limited. The mutation‐Adjusted Risk Score (MARS), International Prognostic Scoring System (IPSM) Global Systemic Mastocytosis (GPSM) have been established characterize outcomes of patients overall AdvSM. However, given outcome's dependency on subtype,...
Abstract Mast cells are key actors of innate immunity and Th2 adaptive immune response which counterbalance Th1 response, critical for anti-viral immunity. Clonal Cells Activation Disorders (cMCADs) such as mastocytosis clonal mast activation syndrome characterized by an abnormal accumulation and/or activation. No data have been published on the patients with cMCADs. The aims study were to collected, in a comprehensive way, outcomes cMCADs who experienced biologically-proven COVID-19...