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https://www.readbyqxmd.com/read/27799271/incidence-and-phenotype-at-diagnosis-of-very-early-onset-compared-with-later-onset-paediatric-inflammatory-bowel-disease-a-population-based-study-1988-2011
#1
E Bequet, H Sarter, M Fumery, F Vasseur, L Armengol-Debeir, B Pariente, D Ley, C Spyckerelle, H Coevoet, J E Laberenne, L Peyrin-Biroulet, G Savoye, D Turck, C Gower-Rousseau
BACKGROUND AND AIMS: Very-early-onset inflammatory bowel disease (VEO-IBD) is a form of IBD that is distinct from that of children with an older onset. We compared changes over time in the incidence and phenotype at diagnosis between two groups according to age at IBD diagnosis: VEO-IBD diagnosed before the age of 6, and early-onset IBD (EO-IBD) diagnosed between 6 and 16 years of age. METHODS: Data were obtained from a cohort enrolled in a prospective French population-based registry from 1988 to 2011...
October 31, 2016: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/27350736/comprehensive-mutation-screening-for-10-genes-in-chinese-patients-suffering-very-early-onset-inflammatory-bowel-disease
#2
Yuan Xiao, Xin-Qiong Wang, Yi Yu, Yan Guo, Xu Xu, Ling Gong, Tong Zhou, Xiao-Qin Li, Chun-Di Xu
AIM: To perform sequencing analysis in patients with very early-onset inflammatory bowel disease (VEO-IBD) to determine the genetic basis for VEO-IBD in Chinese pediatric patients. METHODS: A total of 13 Chinese pediatric patients with VEO-IBD were diagnosed from May 2012 and August 2014. The relevant clinical characteristics of these patients were analyzed. Then DNA in the peripheral blood from patients was extracted. Next generation sequencing (NGS) based on an Illumina-Miseq platform was used to analyze the exons in the coding regions of 10 candidate genes: IL-10, IL-10RA, IL-10RB, NOD2, FUT2, IL23R, GPR35, GPR65, TNFSF15, and ADAM30...
June 28, 2016: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/26849720/o-003%C3%A2-understanding-the-relevance-of-whole-exome-sequencing-identified-variants-in-patients-with-very-early-onset-ibd
#3
Judith Kelsen, Noor Dawany, Maire Conrad, Alejuandro Martinez, Petar Mamula, David Piccoli, David Artis, Gregory Sonnenberg, Robert Baldassano, Kathleen Sullivan, Marcella Devoto
BACKGROUND: Very early onset inflammatory bowel disease (VEO-IBD) is frequently considered a different disease process than older onset IBD. The severe phenotype and young age of onset suggest a more pronounced genetic susceptibility and dysregulated immune response. We hypothesized that rare or novel variants involving pathways in barrier defense, autoimmunity as well as both B and T cell development and activation, were enriched in patients with VEO-IBD. In turn, these variants result in altered gene expression, impaired immunological responses, and aberrant host-microbe interactions...
March 2016: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/26581487/a-de-novo-whole-gene-deletion-of-xiap-detected-by-exome-sequencing-analysis-in-very-early-onset-inflammatory-bowel-disease-a-case-report
#4
Judith R Kelsen, Noor Dawany, Alejandro Martinez, Alejuandro Martinez, Christopher M Grochowski, Kelly Maurer, Eric Rappaport, David A Piccoli, Robert N Baldassano, Petar Mamula, Kathleen E Sullivan, Marcella Devoto
BACKGROUND: Children with very early-onset inflammatory bowel disease (VEO-IBD), those diagnosed at less than 5 years of age, are a unique population. A subset of these patients present with a distinct phenotype and more severe disease than older children and adults. Host genetics is thought to play a more prominent role in this young population, and monogenic defects in genes related to primary immunodeficiencies are responsible for the disease in a small subset of patients with VEO-IBD...
November 18, 2015: BMC Gastroenterology
https://www.readbyqxmd.com/read/26393237/maintaining-intestinal-health-the-genetics-and-immunology-of-very-early-onset-inflammatory-bowel-disease
#5
Judith R Kelsen, Robert N Baldassano, David Artis, Gregory F Sonnenberg
Inflammatory bowel disease (IBD) is a multifactoral disease caused by dysregulated immune responses to commensal or pathogenic microbes in the intestine, resulting in chronic intestinal inflammation. An emerging population of patients with IBD occurring before the age of 5 represent a unique form of disease, termed Very Early Onset (VEO)-IBD, which is phenotypically- and genetically-distinct from older-onset IBD. VEO-IBD is associated with increased disease severity, aggressive progression and poor responsiveness to most conventional therapies...
September 1, 2015: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/26193622/exome-sequencing-analysis-reveals-variants-in-primary-immunodeficiency-genes-in-patients-with-very-early-onset-inflammatory-bowel-disease
#6
Judith R Kelsen, Noor Dawany, Christopher J Moran, Britt-Sabina Petersen, Mahdi Sarmady, Ariella Sasson, Helen Pauly-Hubbard, Alejandro Martinez, Kelly Maurer, Joanne Soong, Eric Rappaport, Andre Franke, Andreas Keller, Harland S Winter, Petar Mamula, David Piccoli, David Artis, Gregory F Sonnenberg, Mark Daly, Kathleen E Sullivan, Robert N Baldassano, Marcella Devoto
BACKGROUND & AIMS: Very early onset inflammatory bowel disease (VEO-IBD), IBD diagnosed at 5 years of age or younger, frequently presents with a different and more severe phenotype than older-onset IBD. We investigated whether patients with VEO-IBD carry rare or novel variants in genes associated with immunodeficiencies that might contribute to disease development. METHODS: Patients with VEO-IBD and parents (when available) were recruited from the Children's Hospital of Philadelphia from March 2013 through July 2014...
November 2015: Gastroenterology
https://www.readbyqxmd.com/read/24951840/incidence-outcomes-and-health-services-burden-of-very-early-onset-inflammatory-bowel-disease
#7
COMPARATIVE STUDY
Eric I Benchimol, David R Mack, Geoffrey C Nguyen, Scott B Snapper, Wenbin Li, Nassim Mojaverian, Pauline Quach, Aleixo M Muise
BACKGROUND & AIMS: The Paris pediatric modification of the Montreal classification defines very early onset inflammatory bowel disease (VEO-IBD) as a form of IBD distinct from that of older children. We compared the incidence and outcomes of VEO-IBD with those of IBD in older children. METHODS: We performed a population-based retrospective cohort study of all children diagnosed with IBD in Ontario, Canada, from 1994 through 2009. Trends in standardized incidence were calculated using Poisson regression...
October 2014: Gastroenterology
https://www.readbyqxmd.com/read/24785691/very-early-onset-inflammatory-bowel-disease-ibd-in-infancy-is-a-different-disease-entity-from-adult-onset-ibd-one-form-of-interleukin-10-receptor-mutations
#8
Jung Ok Shim, Jeong Kee Seo
Infantile periods may have stronger genetic influences. Recently, studies on genetic defects in the interleukin-10 (IL-10) signaling pathway have provided new insights into inflammatory bowel disease (IBD). This study is to reveal whether mutations of IL-10 signaling pathway genes contribute to the phenotypes of IBD. Forty children who were diagnosed with IBD below the age of 10 years were enrolled. We sequenced the genes interleukin-10 receptor A (IL-10RA), IL-10RB and IL-10, and analyzed the clinical characteristics of very early-onset IBD (VEO-IBD)...
June 2014: Journal of Human Genetics
https://www.readbyqxmd.com/read/24519095/very-early-onset-inflammatory-bowel-disease-associated-with-aberrant-trafficking-of-il-10r1-and-cure-by-t-cell-replete-haploidentical-bone-marrow-transplantation
#9
Dhaarini Murugan, Michael H Albert, Jörg Langemeier, Jens Bohne, Jacek Puchalka, Päivi M Järvinen, Fabian Hauck, Anne K Klenk, Christine Prell, Stephanie Schatz, Jana Diestelhorst, Barbara Sciskala, Naschla Kohistani, Bernd H Belohradsky, Susanna Müller, Thomas Kirchner, Mark R Walter, Philip Bufler, Aleixo M Muise, Scott B Snapper, Sibylle Koletzko, Christoph Klein, Daniel Kotlarz
PURPOSE: Loss-of-function mutations in IL10 and IL10R cause very early onset inflammatory bowel disease (VEO-IBD). Here, we investigated the molecular pathomechanism of a novel intronic IL10RA mutation and describe a new therapeutic approach of T cell replete haploidentical hematopoietic stem cell transplantation (HSCT). METHODS: Clinical data were collected by chart review. Genotypes of IL10 and IL10R genes were determined by Sanger sequencing. Expression and function of mutated IL-10R1 were assessed by quantitative PCR, Western blot analysis, enzyme-linked immunosorbent assays, confocal microscopy, and flow cytometry...
April 2014: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/24507158/interleukin-10-receptor-signaling-master-regulator-of-intestinal-mucosal-homeostasis-in-mice-and-humans
#10
REVIEW
Dror S Shouval, Jodie Ouahed, Amlan Biswas, Jeremy A Goettel, Bruce H Horwitz, Christoph Klein, Aleixo M Muise, Scott B Snapper
Interleukin 10 (IL10) is a key anti-inflammatory cytokine that can inhibit proinflammatory responses of both innate and adaptive immune cells. An association between IL10 and intestinal mucosal homeostasis became clear with the discovery that IL10 and IL10 receptor (IL10R)-deficient mice develop spontaneous intestinal inflammation. Similarly, patients with deleterious mutations in IL10, IL10RA, or IL10RB present with severe enterocolitis within the first months of life. Here, we review recent findings on how IL10- and IL10R-dependent signaling modulates innate and adaptive immune responses in the murine gastrointestinal tract, with implications of their role in the prevention of inflammatory bowel disease (IBD)...
2014: Advances in Immunology
https://www.readbyqxmd.com/read/24430113/higher-activity-of-the-inducible-nitric-oxide-synthase-contributes-to-very-early-onset-inflammatory-bowel-disease
#11
Sandeep S Dhillon, Lucas A Mastropaolo, Ryan Murchie, Christopher Griffiths, Cornelia Thöni, Abdul Elkadri, Wei Xu, Amanda Mack, Thomas Walters, Conghui Guo, David Mack, Hien Huynh, Shairaz Baksh, Mark S Silverberg, John H Brumell, Scott B Snapper, Aleixo M Muise
OBJECTIVES: The NOS2 gene encodes for the inducible nitric oxide synthase (iNOS), responsible for nitric oxide (NO) production, which contributes to antimicrobial and antipathogenic activities. Higher levels of both iNOS and NO-induced damage have been observed in inflammatory bowel disease (IBD) patients. NOS2 may have a role in a specific subset of IBD patients with severe and/or extensive colitis. Therefore, the aim of this study is to examine the role of NOS2 in such a subset, very early onset IBD (VEO-IBD)...
2014: Clinical and Translational Gastroenterology
https://www.readbyqxmd.com/read/22550014/il-10r-polymorphisms-are-associated-with-very-early-onset-ulcerative-colitis
#12
COMPARATIVE STUDY
Christopher J Moran, Thomas D Walters, Cong-Hui Guo, Subra Kugathasan, Christoph Klein, Dan Turner, Victorien M Wolters, Robert H Bandsma, Marialena Mouzaki, Mary Zachos, Jacob C Langer, Ernest Cutz, Susanne M Benseler, Chaim M Roifman, Mark S Silverberg, Anne M Griffiths, Scott B Snapper, Aleixo M Muise
BACKGROUND: Interleukin-10 (IL-10) signaling genes are attractive inflammatory bowel disease (IBD) candidate genes as IL-10 restricts intestinal inflammation, IL-10 polymorphisms have been associated with IBD in genome-wide association studies, and mutations in IL-10 and IL-10 receptor (IL-10R) genes have been reported in immunodeficient children with severe infantile-onset IBD. Our objective was to determine if IL-10R polymorphisms were associated with early-onset IBD (EO-IBD) and very-early-onset IBD (VEO-IBD)...
January 2013: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/21900546/nadph-oxidase-complex-and-ibd-candidate-gene-studies-identification-of-a-rare-variant-in-ncf2-that-results-in-reduced-binding-to-rac2
#13
Aleixo M Muise, Wei Xu, Cong-Hui Guo, Thomas D Walters, Victorien M Wolters, Ramzi Fattouh, Grace Y Lam, Pingzhao Hu, Ryan Murchie, Mary Sherlock, Juan Cristóbal Gana, Richard K Russell, Michael Glogauer, Richard H Duerr, Judy H Cho, Charlie W Lees, Jack Satsangi, David C Wilson, Andrew D Paterson, Anne M Griffiths, Mark S Silverberg, John H Brumell
OBJECTIVE: The NOX2 NADPH oxidase complex produces reactive oxygen species and plays a critical role in the killing of microbes by phagocytes. Genetic mutations in genes encoding components of the complex result in both X-linked and autosomal recessive forms of chronic granulomatous disease (CGD). Patients with CGD often develop intestinal inflammation that is histologically similar to Crohn's colitis, suggesting a common aetiology for both diseases. The aim of this study is to determine if polymorphisms in NOX2 NADPH oxidase complex genes that do not cause CGD are associated with the development of inflammatory bowel disease (IBD)...
July 2012: Gut
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