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Veronica Busoni, Julie Lemale, Beatrice Dubern, Fernando Frangi, Patrice Bourgeois, Marina Orsi, Catherine Badens, Alexandre Fabre
BACKGROUND: Very early onset inflammatory bowel disease (VEOIBD) (IBD before 6 years of age) may manifest as a monogenic disease affecting the gastrointestinal tract. Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE), a rare disorder caused by alteration of a complex involved in RNA degradation, has been reported to present with some degree of colitis and in some cases an IBD-like presentation. METHODS: We reviewed clinical and biological data of four previously published cases and add detailed data of two new cases of SD/THE with an IBD-like presentation...
March 28, 2016: Journal of Pediatric Gastroenterology and Nutrition
Patti Hayes, Sandeep Dhillon, Kim O'Neill, Cornelia Thoeni, Ken Y Hui, Abdul Elkadri, Conghui H Guo, Lidija Kovacic, Gabriella Aviello, Luis A Alvarez, Anne M Griffiths, Scott B Snapper, Steven R Brant, James H Doroshow, Mark S Silverberg, Inga Peter, Dermot P B McGovern, Judy Cho, John H Brumell, Holm H Uhlig, Billy Bourke, Aleixo A Muise, Ulla G Knaus
BACKGROUND & AIMS: Defects in intestinal innate defense systems predispose patients to inflammatory bowel disease (IBD). Reactive oxygen species (ROS) generated by nicotinamide-adenine dinucleotide phosphate (NADPH) oxidases in the mucosal barrier maintain gut homeostasis and defend against pathogenic attack. We hypothesized that molecular genetic defects in intestinal NADPH oxidases might be present in children with IBD. METHODS: After targeted exome sequencing of epithelial NADPH oxidases NOX1 and DUOX2 on 209 children with very early onset inflammatory bowel disease (VEOIBD), the identified mutations were validated using Sanger Sequencing...
September 1, 2015: Cellular and Molecular Gastroenterology and Hepatology
Jochen Kammermeier, Suzanne Drury, Chela T James, Robert Dziubak, Louise Ocaka, Mamoun Elawad, Philip Beales, Nicholas Lench, Holm H Uhlig, Chiara Bacchelli, Neil Shah
BACKGROUND: Multiple monogenetic conditions with partially overlapping phenotypes can present with inflammatory bowel disease (IBD)-like intestinal inflammation. With novel genotype-specific therapies emerging, establishing a molecular diagnosis is becoming increasingly important. DESIGN: We have introduced targeted next-generation sequencing (NGS) technology as a prospective screening tool in children with very early onset IBD (VEOIBD). We evaluated the coverage of 40 VEOIBD genes in two separate cohorts undergoing targeted gene panel sequencing (TGPS) (n=25) and whole exome sequencing (WES) (n=20)...
November 2014: Journal of Medical Genetics
Sandeep S Dhillon, Ramzi Fattouh, Abdul Elkadri, Wei Xu, Ryan Murchie, Thomas Walters, Conghui Guo, David Mack, Hien Q Huynh, Shairaz Baksh, Mark S Silverberg, Anne M Griffiths, Scott B Snapper, John H Brumell, Aleixo M Muise
BACKGROUND & AIMS: The colitis observed in patients with very early onset inflammatory bowel disease (VEOIBD; defined as onset of disease at younger than 6 years of age) often resembles that of chronic granulomatous disease (CGD) in extent and features of colonic inflammation observed by endoscopy and histology. CGD is a severe immunodeficiency caused by defects in the genes that encode components of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. We investigated whether variants in genes that encode NADPH oxidase components affect susceptibility to VEOIBD using independent approaches...
September 2014: Gastroenterology
Yaron Avitzur, Conghui Guo, Lucas A Mastropaolo, Ehsan Bahrami, Hannah Chen, Zhen Zhao, Abdul Elkadri, Sandeep Dhillon, Ryan Murchie, Ramzi Fattouh, Hien Huynh, Jennifer L Walker, Paul W Wales, Ernest Cutz, Yoichi Kakuta, Joel Dudley, Jochen Kammermeier, Fiona Powrie, Neil Shah, Christoph Walz, Michaela Nathrath, Daniel Kotlarz, Jacek Puchaka, Jonathan R Krieger, Tomas Racek, Thomas Kirchner, Thomas D Walters, John H Brumell, Anne M Griffiths, Nima Rezaei, Parisa Rashtian, Mehri Najafi, Maryam Monajemzadeh, Stephen Pelsue, Dermot P B McGovern, Holm H Uhlig, Eric Schadt, Christoph Klein, Scott B Snapper, Aleixo M Muise
BACKGROUND & AIMS: Very early onset inflammatory bowel diseases (VEOIBD), including infant disorders, are a diverse group of diseases found in children younger than 6 years of age. They have been associated with several gene variants. Our aim was to identify the genes that cause VEOIBD. METHODS: We performed whole exome sequencing of DNA from 1 infant with severe enterocolitis and her parents. Candidate gene mutations were validated in 40 pediatric patients and functional studies were carried out using intestinal samples and human intestinal cell lines...
April 2014: Gastroenterology
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