A5030545339- Inflammatory Bowel Disease
- Microscopic Colitis
- Immunodeficiency and Autoimmune Disorders
- Helicobacter pylori-related gastroenterology studies
- Immune Cell Function and Interaction
- T-cell and B-cell Immunology
- Galectins and Cancer Biology
- Protein Tyrosine Phosphatases
- Clinical Nutrition and Gastroenterology
- Viral gastroenteritis research and epidemiology
- Diabetes and associated disorders
- Eosinophilic Esophagitis
- Mosquito-borne diseases and control
- Gastroesophageal reflux and treatments
- Connective tissue disorders research
- Autophagy in Disease and Therapy
- Autoimmune and Inflammatory Disorders
- Lipid metabolism and disorders
- Vascular Tumors and Angiosarcomas
- Digestive system and related health
- Celiac Disease Research and Management
- Potassium and Related Disorders
- Pediatric Hepatobiliary Diseases and Treatments
- Adrenal Hormones and Disorders
- Clostridium difficile and Clostridium perfringens research
Inserm
2015-2025
Université Claude Bernard Lyon 1
2014-2025
Hôpital Femme Mère Enfant
2016-2025
Centre International de Recherche en Infectiologie
2015-2025
Institut des Maladies Génétiques Imagine
2018-2024
Hospices Civils de Lyon
2013-2024
Centre National de la Recherche Scientifique
2015-2024
École Normale Supérieure de Lyon
2016-2022
Assistance Publique – Hôpitaux de Paris
2017-2022
Hôpital Necker-Enfants Malades
2017-2022
STAT2 is a transcription factor activated by type I and III interferons. We report 23 patients with loss of function variants causing autosomal recessive (AR), complete deficiency. Both cells transfected mutant alleles the patients' display impaired expression interferon stimulated genes control in-vitro viral infections. Clinical manifestations from early childhood onward include severe adverse reaction to live attenuated vaccines (LAV, 12/17 patients) infections (10/23 patients),...
An expanding number of monogenic defects have been identified as causative severe forms very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification known molecular diagnosis and adapt treatment.A total 207 children were recruited in 45 paediatric centres through an international collaborative network [ESPGHAN GENIUS working group] with a clinical presentation VEO-IBD [n = 185]...
Calprotectin and S100A12 (calgranulin C) are markers of gut inflammation. The aim was to compare the usefulness serum fecal calprotectin (fCal) in assessing response anti-TNF predicting relapse under maintenance therapy Crohn's diseases (CD).Thirty-two consecutive patients with CD were treated adalimumab or infliximab. All received an induction regimen followed by infliximab 5 mg/kg every 8 weeks 40 mg other week provided at 0 14 blood samples for determination CRP, levels.Clinical remission...
Research Article22 March 2018Open Access Source DataTransparent process Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis Marianna Parlato INSERM, UMR1163, Laboratory Intestinal Immunity Institut Imagine, Paris, France GENIUS group from ESPGHAN Search for more papers by this author Fabienne Charbit-Henrion Université Paris Descartes-Sorbonne Cité, Department Pediatric Gastroenterology, Assistance Publique-Hôpitaux de Hôpital...
Objective: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an autoimmune disease caused by mutations in the forkhead box protein 3 gene (FOXP3), which encodes a key regulator of immune tolerance. The aim this study was to describe clinical heterogeneity national French cohort. Methods: Multicenter retrospective patients diagnosed with IPEX FOXP3. Results: Thirty children from 26 families were included. Age at onset (median [first third quartile]) 1.5 mo...
Objectives: Ustekinumab is known to be efficient in adult patients suffering from moderate severe Crohn disease (CD) and ulcerative colitis (UC) resistant anti-tumor necrosis factor-alpha (TNF-α). Here, we described the clinical course of treatment with ustekinumab French pediatric inflammatory bowel (IBD) treated ustekinumab. Methods: This study includes all by injection for IBD (CD UC), between January 2016 December 2019. Results: Fifty-three were enrolled, 15 males 38 females. Forty-eight...
Variants in the UNC45A cochaperone have been recently associated with a syndrome combining diarrhea, cholestasis, deafness, and bone fragility. Yet mechanism underlying intestinal failure deficiency remains unclear. Here, biallelic variants were identified by next-generation sequencing 6 patients congenital diarrhea. Corroborating silico prediction, either abolished expression or altered protein conformation. Myosin VB was mass spectrometry as client of chaperone found misfolded UNC45AKO...
Crohn disease (CD) is an inflammatory bowel whose pathogenesis involves inappropriate immune responses toward gut microbiota on genetically predisposed backgrounds. Notably, CD associated with single-nucleotide polymorphisms affecting several genes involved in macroautophagy/autophagy, the catabolic process that ensures degradation and recycling of cytosolic components microorganisms. In a clinical translation perspective, monitoring autophagic activity patients will require some knowledge...
Regulatory Foxp3+CD4+ T cells [Tregs] have been implicated in the control of colitis T-cell transfer models, yet their ability to regulate induced by innate immunity and impact gut inflammation on fate function poorly documented. Colitis was dextran sodium sulphate DEREG transgenic mice. Tregs ablation experiments showd that could limit severity B6 Gut resulted increased number mesenteric lymph nodes [MLN] colon lamina propria [LP], although frequency decreased due massive concomitant...
Abstract Objectives Refeeding syndrome (RS) defines the deleterious clinical and metabolic changes occurring during nutritional support of severely malnourished patients. Pediatric guidelines to prevent treat RS are scarce highly variable. This study aimed evaluate effectiveness safety an enteral refeeding protocol in undernourished hospitalized children with anorexia nervosa (AN) or organic diseases (OD). Methods ancillary Preventing Malnutrition Restoring Nutritional Status Hospitalized...
Congenital chloride diarrhoea [CLD] is a rare autosomal recessive disease caused by mutations in the solute family carrier 26 member 3 [SLC26A3] gene. Patients suffer from life-long watery and loss. Inflammatory bowel [IBD] has been reported individual patients with CLD scl26a3-deficient mice. We performed an international multicentre analysis to build cohort identify cases IBD. assessed clinical genetic characteristics of subjects studied cumulative incidence CLD-associated In 72 17...
Dysregulated transforming growth factor TGF-β signaling underlies the pathogenesis of genetic disorders affecting connective tissue such as Loeys-Dietz syndrome. Here, we report 12 individuals with bi-allelic loss-of-function variants in IPO8 who presented a syndromic association characterized by cardio-vascular anomalies, joint hyperlaxity, and various degree dysmorphic features developmental delay well immune dysregulation; were from nine unrelated families. Importin 8 belongs to...
Infliximab (IFX) and adalimumab (ADA) are recommended for induction maintenance of remission in pediatric Crohn's disease (CD). ADA is now often used first line due to its efficacy tolerability, but a loss response (LOR) can occur over time. The aim was assess the IFX as second therapy after LOR or intolerance CD patients at 1 year. We conducted retrospective multicenter study France among "GETAID pédiatrique" centers between April 2019 2022. under 18 years old treated with failure were...
Previous studies have shown rates of surgical resection up to 41% in stricturing pediatric Crohn's disease (CD). In this retrospective multicenter study, our aims were identify clinical risk factors and magnetic resonance enterography (MRE) features small bowel strictures associated with surgery. Pediatric patients symptomatic CD (defined as obstructive symptoms or proximal dilatation on MRE) confirmed by MRE between 2010 2020 recruited from 12 French tertiary hospitals. Patient...
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ABSTRACT Objectives: Digestive perianastomotic ulcerations (DPAU) resembling Crohn disease lesions are long-term complications of intestinal resections, occurring in children and young adults. They known to be uncommon, severe difficult treat. Methods: In the absence recommendations, we performed a large European survey among members ESPGHAN working group on inflammatory bowel (IBD) order collect experience expert pediatric gastroenterologists DPAU. Results: Fifty-one patients (29 boys 22...
Background. Organ transplantation (Tx) is a risk factor for Clostridium difficile infection (CDI). After intestinal (ITx), few data are available on the impact of this graft and possible induction rejection. Methods. We included retrospectively all children after ITx in our unit, with at least 1 year survival. All samples positive (CD) its toxin were considered. Results. Among 57 recipients (60 Txs), 22 (39%) developed culture-proven CDI, 12 isolated small bowel Tx, 9 liver-small...