📇 Rhumatologue · SURESNES CEDEX · (92) · Salarié

MME EMILIE CATHERINOT

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Auteur de référence en rhumatologie
27 articles scientifiques publiés — un praticien à la pointe de la recherche
Délais de RDV courts dans la région
136 rhumatos / 100 000 hab. — département bien doté

Rhumatologue

📍 SURESNES CEDEX (92)SalariéRPPS 10001564151

📊 Reconnaissance scientifique : 31/100📝 93 articles publiés🇫🇷 Publications académiques françaises (8)

✨ Génération du profil synthétique IA en cours…

Activité de recherche & publications

Indicateurs publics agrégés sur 250 M+ d'œuvres scientifiques (OpenAlex, PubMed). Traduits ici en langage patient.

Influence scientifique

Données ANS publiques (Licence Ouverte 2.0) · Enrichissements MonRhumato 100 % opt-in · Toute personne référencée peut demander la suppression ou la rectification.

Top publications · les plus citées

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

The Journal of experimental medicine · 2020

📚 116 citations🎯 RCR 5.11Top 7% NIH🔓 Open Access

Lire l'abstract Crossref ↓

Autosomal dominant hyper-IgE syndrome (AD-HIES) is typically caused by dominant-negative (DN) STAT3 mutations. Patients suffer from cold staphylococcal lesions and mucocutaneous candidiasis, severe allergy, and skeletal abnormalities. We report 12 patients from 8 unrelated kindreds with AD-HIES due to DN IL6ST mutations. We identified seven different truncating mutations, one of which was recurrent. The mutant alleles encode GP130 receptors bearing the transmembrane domain but lacking both the recycling motif and all four STAT3-recruiting tyrosine residues. Upon overexpression, the mutant proteins accumulate at the cell surface and are loss of function and DN for cellular responses to IL-6, IL-11, LIF, and OSM. Moreover, the patients’ heterozygous leukocytes and fibroblasts respond poorly to IL-6 and IL-11. Consistently, patients with STAT3 and IL6ST mutations display infectious and allergic manifestations of IL-6R deficiency, and some of the skeletal abnormalities of IL-11R deficiency. DN STAT3 and IL6ST mutations thus appear to underlie clinical phenocopies through impairment of the IL-6 and IL-11 response pathways.

Pulmonary manifestations in adult patients with chronic granulomatous disease

The European respiratory journal · 2015

📚 67 citations🎯 RCR 2.86Top 17% NIH

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Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by failure of superoxide production in phagocytic cells. The disease is characterised by recurrent infections and inflammatory events, frequently affecting the lungs. Improvement of life expectancy now allows most patients to reach adulthood. We aimed to describe the pattern of pulmonary manifestations occurring during adulthood in CGD patients. This was a retrospective study of the French national cohort of adult patients (≥16 years old) with CGD. Medical data were obtained for 67 adult patients. Pulmonary manifestations affected two-thirds of adult patients. Their incidence was significantly higher than in childhood (mean annual rate 0.22 versus 0.07, p=0.01). Infectious risk persisted despite anti-infectious prophylaxis. Invasive fungal infections were frequent (0.11 per year per patient) and asymptomatic in 37% of the cases. They often required lung biopsy for diagnosis (10 out of 30). Noninfectious respiratory events concerned 28% of adult patients, frequently associated with a concomitant fungal infection (40%). They were more frequent in patients with the X-linked form of CGD. Immune-modulator therapies were required in most cases (70%). Respiratory manifestations are major complications of CGD in adulthood. Noninfectious pulmonary manifestations are as deleterious as infectious pneumonia. A specific respiratory monitoring is necessary.

Chronic Granulomatous Disease in Patients Reaching Adulthood: A Nationwide Study in France

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America · 2017

📚 51 citations🎯 RCR 1.97🔓 Open Access📄 PDF gratuit ↗

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MME EMILIE CATHERINOT

Pourquoi vous devez consulter ce praticien

Activité de recherche & publications

Publications académiques en France

Lieu de consultation

Tarifs & secteur de conventionnement

Prendre rendez-vous & contact

Top publications · les plus citées

Publications scientifiques (27) — classées par pathologie

Transversal18

Revue générale3

Épidémiologie & registres2

Pédiatrie2

Case report / série1

Génétique1

Pharmacovigilance1

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