Genomes and Genes
Frank M Ruemmele
- Autoimmune enteropathy: molecular conceptsFrank M Ruemmele
Pediatric Gastroenterology Unit, Department of Pediatrics, Necker Enfants Malades Hospital, Paris, Universite Rene Descartes, Paris V, France
Curr Opin Gastroenterol 20:587-91. 2004..Recent advances in the molecular workup of AIE gave first insight into the pathophysiology of AIE. In this review, we discuss new molecular concepts of AIE resulting in new diagnostic and therapeutic possibilities...
- Intestinal epithelial dysplasia (tufting enteropathy)Olivier Goulet
Department of Pediatric Gastroenterology Hepatology and Nutrition and Reference Center for Rare Digestive Disease, Hopital Necker Enfants Malades, 149, rue de Sevres, Cedex 15, 75743 Paris, France
Orphanet J Rare Dis 2:20. 2007..IED becomes an indication for intestinal transplantation, while timing of referral for it is crucial before the onset of severe complications...
- New perspectives for children with microvillous inclusion disease: early small bowel transplantationFrank M Ruemmele
Combined Program of Liver and Intestinal Transplantation, Hopital Necker Enfants Malades, Paris, France
Transplantation 77:1024-8. 2004..Despite long-term total parenteral nutrition, life expectancy is extremely reduced because of metabolic or septic complications or liver failure...
- Chronic enteropathy: molecular basisFrank M Ruemmele
Pediatric Gastroenterology, Hepatology and Nutrition, INSERM U793, Hopital Necker Enfants Malades, 149 rue de Sevres, FR 75743 Paris Cedex 15, France
Nestle Nutr Workshop Ser Pediatr Program 59:73-85; discussion 85-8. 2007..With the increasing understanding of the molecular basis of these distinct diarrheal disorders, new treatment strategies will emerge within the next years, giving new hope to these critically ill children and their families...
- Development of Crohn disease during anti-TNF-alpha therapy in a child with juvenile idiopathic arthritisF M Ruemmele
Paediatric Gastroenterology, Hepatology and Nutrition, Hopital Necker Enfants Malades, Paris, France
J Pediatr Gastroenterol Nutr 39:203-6. 2004
- Microvillous inclusion disease (microvillous atrophy)Frank M Ruemmele
INSERM EMI 0212, Pediatric Gastroenterology, Hepatology and Nutrition, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
Orphanet J Rare Dis 1:22. 2006..Early small bowel transplantation resulting in intestinal autonomy gives new hope for disease management and outcome...
- Defective IL10 signaling defining a subgroup of patients with inflammatory bowel diseaseBernadette Begue
INSERM U989, Paris, France
Am J Gastroenterol 106:1544-55. 2011..Thus, we aimed to further elaborate the hypothesis of defective anti-inflammatory responses in patients with IBD...
- Tolerance and efficacy of azathioprine in pediatric Crohn's diseaseLaura Riello
Assistance Publique Hopitaux de Paris, Hopital Necker Enfants Malades, Paediatric Gastroenterology Unit, Paris, France
Inflamm Bowel Dis 17:2138-43. 2011..In the present study we analyzed the tolerance and efficacy of azathioprine (AZA) to maintain remission in a homogenous single-center observational cohort of children with CD...
- Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathyNicolette Moes
Universite Paris Descartes, Paris, France
Gastroenterology 139:770-8. 2010..We analyzed the molecular basis of neonatal or early postnatal AIE using clinical, genetic, and functional immunological studies...
- Efficacy of infliximab in pediatric Crohn's disease: a randomized multicenter open-label trial comparing scheduled to on demand maintenance therapyFrank M Ruemmele
AP HP, Hopital Necker Enfants Malades, Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Paris, France
Inflamm Bowel Dis 15:388-94. 2009..The present study aimed to evaluate in a prospective manner the efficacy and safety of IFX as maintenance therapy of severe pediatric CD comparing scheduled and "on demand" treatment strategies...
- 12-month follow-up after successful infliximab therapy in pediatric crohn diseaseJan Wynands
AP HP, Hopital Necker Enfants Malades, Department of Pediatrics, Pediatric Gastroenterology, Paris, France
J Pediatr Gastroenterol Nutr 46:293-8. 2008..Given the increasing safety concerns about the concomitant and prolonged use of IFX and azathioprine in CD, we wanted to address the clinical outcome in pediatric CD patients who responded to IFX medication, once IFX was stopped...
- Transforming growth factor and intestinal inflammation: the role of nutritionFrank M Ruemmele
Université Sorbonne Paris Cité, Universite Paris Descartes, INSERM U989, Hopital Necker Enfants Malades, Service de Gastroentérologie pédiatrique, Paris, France
Nestle Nutr Inst Workshop Ser 77:91-8. 2013....
- Pediatric ulcerative colitis associated with autoimmune diseases: a distinct form of inflammatory bowel disease?Felipe Ordonez
Assistance Publique Hopitaux de Paris, Hopital Necker Enfants Malades, Service de Gastroentérologie pédiatrique, Paris, France
Inflamm Bowel Dis 18:1809-17. 2012..The aim of this study was to describe these features, in order to differentiate a subgroup of colitis associated with autoimmunity (CAI) from CUC...
- Microvillous inclusion disease: how to improve the prognosis of a severe congenital enterocyte disorderUgur Halac
Pediatric Gastroenterology, Hepatology and Nutrition Unit, Necker Enfants Malades Hospital, Assistance Publique Hopitaux de Paris, France
J Pediatr Gastroenterol Nutr 52:460-5. 2011....
- Genotype/phenotype analyses for 53 Crohn's disease associated genetic polymorphismsCamille Jung
Universite Paris Diderot, UMR843, Paris, France
PLoS ONE 7:e52223. 2012..However, the impact of these associations in clinical practice remains to be defined. The aim of the study was to analyse the relationship between genotypes and phenotypes for the main 53 CD-associated polymorphisms...
- Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell modelFrank M Ruemmele
Universite Paris Descartes, Faculte Necker, INSERM U793, Paris, France
Hum Mutat 31:544-51. 2010....
- Phenotypic characterization of very early-onset IBD due to mutations in the IL10, IL10 receptor alpha or beta gene: a survey of the Genius Working GroupBenedicte Pigneur
Universite Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France Assistance Publique Hôpitaux de Paris, Hopital Necker Enfants Malades, Service de Gastroentérologie pédiatrique, Paris, France Department of Pediatric Gastroenterology, ErasmusMC Sophia Children s Hospital, Rotterdam, The Netherlands Department of Gastroenterology, Great Ormond Street Hospital for Sick Children and Institute of Child Health, London, United Kingdom Pediatric Gastroenterology Unit, Centro Hospitalar do Porto, Porto, Portugal Marienhospital, Bonn, Germany Department of Gastroenterology, Hepatology and Feeding Disorders, The Children s Memorial Health Institute, Warsaw, Poland Gastroenterologia, Endoscopia Digestiva, Epatologia e Cura del Bambino con Trapianto di Fegato, Dipartimento Salute della Donna e del Bambino, Padova, Italy Assistance Publique Hôpitaux de Paris, Hopital Necker Enfants Malades, Service d Anatomopathologie, Paris, France Assistance Publique Hôpitaux de Paris, Hopital Necker Enfants Malades, Service de Radiologie, Paris, France Inserm U989, Paris, Turkey
Inflamm Bowel Dis 19:2820-8. 2013..We set up the GENetically determined ImmUne-mediated enteropathieS (GENIUS) network and collected infants with a proven defect of the IL10 axis for accurate phenotyping of disease presentation and evolution...
- Specific IgG response against Mycobacterium avium paratuberculosis in children and adults with Crohn's diseaseJulien Verdier
Institut National de la Sante et de la Recherche Medicale INSERM, UMR989, Paris, France
PLoS ONE 8:e62780. 2013..In the present work, we assessed antibody reactivity of serum and intestinal fluid against four distinct MAP-antigens, including the recently identified MAP-specific lipopentapeptide (L5P)...
- Clinical and molecular aspects of autoimmune enteropathy and immune dysregulation, polyendocrinopathy autoimmune enteropathy X-linked syndromeFrank M Ruemmele
AP HP, Hopital Necker Enfants Malades, Department of Pediatrics, Pediatric Gastroenterology Unit, France
Curr Opin Gastroenterol 24:742-8. 2008..Recent research data allowed us to gain a first insight in the pathogenesis of AIE. On the basis of this data, we will discuss new aspects of AIE emphasizing new diagnostic and therapeutic possibilities...
- Natural history of Crohn's disease: comparison between childhood- and adult-onset diseaseBenedicte Pigneur
gastroentérologie et nutrition pédiatrique, Hopital d Enfants Armand Trousseau, AP HP, Paris, France
Inflamm Bowel Dis 16:953-61. 2010..Childhood-onset Crohn's disease (CD) might reflect a more severe form of disease. To test this hypothesis we analyzed the long-term natural history of CD in an adult cohort of patients with childhood-onset compared to adult-onset CD...
- Pediatric inflammatory bowel diseases: coming of ageFrank M Ruemmele
Universite Paris Descartes, INSERM U989 and Assistance Publique Hôpitaux de Paris, Hopital Necker Enfants Malades, Paris, France
Curr Opin Gastroenterol 26:332-6. 2010..Inflammatory bowel diseases (IBD) comprise a heterogeneous group of distinct intestinal disorders. Here, we discuss the concept of childhood-onset IBD as separate disease forms within a larger multifactorial disease category...
- Celiac disease in childrenHélène Garnier-Lengliné
Universite Paris Descartes, Sorbonne Paris Cité, Paris, France AP HP, Hopital Necker Enfants Malades, Service de Gastroenterologie, Hépatologie et Nutrition Pédiatriques, 149, rue de Sevres, 75743 Paris Cedex 15, France Unité Inserm UMR_S1163, Institut Imagine, Paris, France Electronic address
Clin Res Hepatol Gastroenterol 39:544-51. 2015..Gluten-free diet is useful to obtain clinical assessment, but also to prevent long-term complications of celiac disease, mainly osteoporosis, other autoimmune diseases, decreased fertility and cancers...
- Enteral nutrition as treatment option for Crohn's disease: in kids only?Frank M Ruemmele
Université Sorbonne Paris Cité, Universite Paris Descartes, INSERM U989, Service de Gastroentérologie pédiatrique, Hopital Necker Enfants Malades, Paris, France
Nestle Nutr Inst Workshop Ser 79:115-23. 2014..These observations give a first basis for the understanding of the impact of EEN on dysbiosis in patients with CD...
- Characteristics of inflammatory bowel disease with onset during the first year of lifeFrank M Ruemmele
Paediatric Gastroenterology Unit, Department of Paediatrics, Hopital Necker Enfants Malades, National Center for Rare Digestive Diseases INSERM EMI U793, University Rene Descartes, Paris, France
J Pediatr Gastroenterol Nutr 43:603-9. 2006..We were particularly interested in the relationship between bacterial infections and the use of antibiotics before the onset of IBD...
- Implication of TNF-related apoptosis-inducing ligand in inflammatory intestinal epithelial lesionsBernadette Begue
INSERM U793, Faculte de Medecine Necker, Universite Paris V, Paris, France
Gastroenterology 130:1962-74. 2006..In this work, we analyzed the potential implication of tumor necrosis factor (TNF)-related apoptosis inducing ligand (TRAIL) in these inflammatory lesions...
- Proinflammatory environment dictates the IL-17-producing capacity of human invariant NKT cellsLúcia Moreira-Teixeira
Universite Paris Descartes, Centre National de la Recherche Scientifique Unité Mixte de Recherche 8147, Hopital Necker Enfants Malades, 75015 Paris, France
J Immunol 186:5758-65. 2011..In conclusion, IL-17 production by human iNKT cells depends on two critical parameters, namely an intrinsic program and a proinflammatory environment...
- Immunomodulation with methotrexate: underused and undervalued?Frank M Ruemmele
University Paris Descartes, Faculty of Medicine, INSERM U793, Hopital Necker Enfants Malades, Paediatric Gastroenterology, FR 75015Paris, France
Dig Dis 27:312-4. 2009..Taken together, there are first data indicating that MTX might play a role comparable to AZA in the treatment of CD; however, to date it seems to be underused in the routine care of IBD patients...
- Molecular mechanisms and cell targets of Th17 cells in the gastrointestinal tract: an innate sense of adaptivityJulien Verdier
Institut National de la Sante et de la Recherche Medicale INSERM, UMR989, Paris, France
Int Rev Immunol 32:475-92. 2013....
- Why are genetics important for nutrition? Lessons from epigenetic researchFrank M Ruemmele
Service de Gastroentérologie pédiatrique, Hopital Necker Enfants Malades, INSERM U989, Universite Paris Descartes, Sorbonne Paris Cité, Paris, France
Ann Nutr Metab 60:38-43. 2012..It is anticipated that within the next few years, major advances will be made to translate this knowledge of nutritional intervention on gene regulation and expression into health preventive programs...
- Bacterial mucosa cross-talk and pathophysiology of inflammationFrank M Ruemmele
University Paris Descartes, Faculty of Medicine, INSERM U793, Paris, France
J Pediatr Gastroenterol Nutr 48:S49-51. 2009....
- Interleukin 15: a key to disrupted intraepithelial lymphocyte homeostasis and lymphomagenesis in celiac diseaseJean Jacques Mention
INSERM EMI 0212, Faculte Necker, Paris
Gastroenterology 125:730-45. 2003....
- Infliximab: how to use it in pediatric Crohn's diseaseFrank M Ruemmele
J Pediatr Gastroenterol Nutr 39:12-4. 2004
- Infliximab at diagnosis: a sledgehammer to crack a walnut?Robert B Heuschkel
J Pediatr Gastroenterol Nutr 45:130-1; author reply 131-2. 2007
- Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 geneTroy R Torgerson
University of Washington and Children s Hospital, Department of Pediatrics, Division of Immunology, Rheumatology, and Infectious Diseases, Seattle, Washington, USA
Gastroenterology 132:1705-17. 2007..In the present work, we aimed to uncover the molecular basis of a distinct form of IPEX syndrome presenting at the edge of autoimmunity and severe allergy...
- MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarityThomas Muller
Department of Pediatrics II, Innsbruck Medical University, 6020 Innsbruck, Austria
Nat Genet 40:1163-5. 2008..In addition, mislocalization of transferrin receptor in MVID enterocytes suggests that MYO5B deficiency causes defective trafficking of apical and basolateral proteins in MVID...
- Regulation of intestinal epithelial cell apoptosis and the pathogenesis of inflammatory bowel disordersFrank M Ruemmele
Laboratory of Intestinal Immunology, Children s Hospital Medical Center, Department of Pediatrics, University of Bonn, Germany
J Pediatr Gastroenterol Nutr 34:254-60. 2002