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very early onset IBD

Tasuku Suzuki, Yoji Sasahara, Atsuo Kikuchi, Humihiko Kakuta, Toshihiko Kashiwabara, Takashi Ishige, Yoshiko Nakayama, Masanori Tanaka, Akihiro Hoshino, Hirokazu Kanegane, Daiki Abukawa, Shigeo Kure
PURPOSE: Pediatric inflammatory bowel disease (IBD) is a heterogeneous disorder caused by multiple factors. Although genetic and immunological analyses are required for a definitive diagnosis, no reports of a comprehensive genetic study of a Japanese population are available. METHODS: In total, 35 Japanese patients <16 years of age suffering from IBD, including 27 patients aged <6 years with very early-onset IBD, were enrolled in this multicenter study. Exome and targeted gene panel sequencing was performed for all patients...
October 17, 2016: Journal of Clinical Immunology
James J Ashton, Gaia Andreoletti, Tracy Coelho, Rachel Haggarty, Akshay Batra, Nadeem A Afzal, R Mark Beattie, Sarah Ennis
BACKGROUND: Most cases of inflammatory bowel disease (IBD) are caused by complex host-environment interaction. There are a number of conditions associated with a single-gene mutation, most cases are very early onset (aged < 6 yr), present with a unique form of disease and often have atypical features. METHODS: Whole-exome data for 147 pediatric patients with IBD were interrogated for a panel of 51 genes associated with monogenic IBD. Observed variation was categorized according to the American College of Medical Genetics (ACMG) guidelines to identify rare, novel, and known variants that might contribute to IBD...
October 2016: Inflammatory Bowel Diseases
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
Jochen Kammermeier, Robert Dziubak, Matilde Pescarin, Suzanne Drury, Heather Godwin, Kate Reeve, Sibongile Chadokufa, Bonita Huggett, Sara Sider, Chela James, Nikki Acton, Elena Cernat, Marco Gasparetto, Gabi Noble-Jamieson, Fevronia Kiparissi, Mamoun Elawad, Phil L Beales, Neil J Sebire, Kimberly Gilmour, Holm H Uhlig, Chiara Bacchelli, Neil Shah
OBJECTIVES: Inflammatory bowel disease presenting in early childhood is extremely rare. More recently, progress has been made to identify children with monogenic forms of IBD predominantly presenting very early in life. In this study, we describe the heterogeneous phenotypes and genotypes of patients with IBD presenting before the age of two years and establish phenotypic features associated with underlying monogenicity. METHODS: Phenotype data of 62 children with disease-onset before the age of two years presenting over the last 20 years were reviewed...
June 14, 2016: Journal of Crohn's & Colitis
Teresa Capriati, Sabrina Cardile, Bronislava Papadatou, Claudio Romano, Daniela Knafelz, Fiammetta Bracci, Antonella Diamanti
INTRODUCTION: The incidence of inflammatory bowel disease (IBD) has increased over the last 50 years. It is now recognized that several genetic defects can express an IBD-like phenotype at very early onset (<6 years). AREAS COVERED: The aim of this review was to update knowledge concerning the specificity of IBD at onset <6 years, which can include conventional/standard IBD as well as monogenic IBD-like diseases. Expert commentary: We found that females are less prone than males to develop monogenic disorders, which have X-linked heritability in several cases...
September 2016: Expert Review of Clinical Immunology
Seak Hee Oh, Jiwon Baek, Herty Liany, Jia Nee Foo, Kyung Mo Kim, Stephen Chang-Oh Yang, Jianjun Liu, Kyuyoung Song
Interleukin-10 receptor (IL10R) mutations are associated with severe childhood inflammatory bowel disease (IBD). Two unrelated patients who died of very early-onset severe IBD and sepsis were identified to harbor the same compound heterozygous mutations in IL10RA (p.R101W; p.T179T). A third patient was found to be homozygous for p.T179T. The missense change of p.R101W has been reported. The synonymous change of p.T179T, with a minor allele frequency of 0.035% in the population, was novel. The p.T179T mutation was located before the 5? splice donor site, leading to exon skipping and out-of-frame fusion of exons 3 and 5, causing altered STAT3 phosphorylation in IL10-induced peripheral blood mononuclear cells...
May 13, 2016: Journal of Crohn's & Colitis
Abdulrahman Al-Hussaini, Mohammad El Mouzan, Mohammed Hasosah, Ali Al-Mehaidib, Khalid ALSaleem, Omar I Saadah, Mohammed Al-Edreesi
BACKGROUND: The objectives of this multicenter national study were to compare the clinical phenotype of early-onset inflammatory bowel disease (IBD) (EO-IBD) with IBD in older children and to examine whether there is any variability in consanguinity rate and familial aggregation in EO-IBD compared with later onset IBD. METHODS: A retrospective analysis was performed on children aged 0 to 14 years with IBD in 17 centers located in geographically distinct regions in Saudi Arabia, from 2003 to 2012...
August 2016: Inflammatory Bowel Diseases
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
Naresh Redhu, Dror Shouval, Vasudevan Bakthavatchalu, Chuanwu Wang, Evan Conaway, Jeremy Goettel, Matthias Mack, Andre Bleich, Lynn Bry, James Fox, Scott Snapper, Bruce Horwitz
BACKGROUND: Rare mutations in IL-10 or its receptors (IL10R) lead to severe very early onset (VEO)/infantile IBD in humans suggesting that the IL10/IL10R pathway is indispensable for mucosal immune homeostasis in the developing gut. Mice deficient in IL10/IL10R also develop spontaneous colitis. We recently reported that IL10R signaling in macrophages is critical for mucosal homeostasis in adult mice and humans (Shouval et al, Immunity 2014). However, the identification of IL10-dependent regulatory mechanisms in infants remains elusive...
March 2016: Inflammatory Bowel Diseases
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
Qi Li, Cheng Hiang Lee, Lauren A Peters, Lucas A Mastropaolo, Cornelia Thoeni, Abdul Elkadri, Tobias Schwerd, Jun Zhu, Bin Zhang, Yongzhong Zhao, Ke Hao, Antonio Dinarzo, Gabriel Hoffman, Brian A Kidd, Ryan Murchie, Ziad Al Adham, Conghui Guo, Daniel Kotlarz, Ernest Cutz, Thomas D Walters, Dror S Shouval, Mark Curran, Radu Dobrin, Carrie Brodmerkel, Scott B Snapper, Christoph Klein, John H Brumell, Mingjing Hu, Ralph Nanan, Brigitte Snanter-Nanan, Melanie Wong, Francoise Le Deist, Elie Haddad, Chaim M Roifman, Colette Deslandres, Anne M Griffiths, Kevin J Gaskin, Holm H Uhlig, Eric E Schadt, Aleixo M Muise
BACKGROUND & AIMS: Severe forms of inflammatory bowel disease (IBD) that develop in very young children can be caused by variants in a single gene. We performed whole-exome sequence (WES) analysis to identify genetic factors that might cause granulomatous colitis and severe perianal disease, with recurrent bacterial and viral infections, in an infant of consanguineous parents. METHODS: We performed targeted WES analysis of DNA collected from the patient and her parents...
May 2016: Gastroenterology
Whitney M Sunseri, Subra Kugathasan, David J Keljo, Julia B Greer, Sarangarajan Ranganathan, Raymond K Cross, Corey A Siegel, Miguel D Regueiro
No abstract text is available yet for this article.
December 2015: Inflammatory Bowel Diseases
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
Italia Loddo, Claudio Romano
Inflammatory bowel diseases (IBDs) are complex, multifactorial disorders characterized by chronic relapsing intestinal inflammation. Although etiology remains largely unknown, recent research has suggested that genetic factors, environment, microbiota, and immune response are involved in the pathogenesis. Epidemiological evidence for a genetic contribution is defined: 15% of patients with Crohn's Disease (CD) have an affected family member with IBD, and twin studies for CD have shown 50% concordance in monozygotic twins compared to <10% in dizygotics...
2015: Frontiers in Immunology
Isabelle Cleynen, Séverine Vermeire
PURPOSE OF REVIEW: Genome-wide association studies (GWAS) have helped to understand the genetic basis and pathogenesis of inflammatory bowel disease (IBD). However, understanding the functional and clinical consequences of the associated alleles has not followed the same pace. In this review, we discuss how studying the genetic predisposition to IBD has increased our understanding about IBD pathogenesis and how epigenetics is becoming more and more important. We describe the potential clinical applications of genetics, and provide important challenges in the field and the future steps to be taken...
November 2015: Current Opinion in Gastroenterology
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
Dermot P B McGovern, Subra Kugathasan, Judy H Cho
In this review, we provide an update on genome-wide association studies (GWAS) in inflammatory bowel disease (IBD). In addition, we summarize progress in defining the functional consequences of associated alleles for coding and noncoding genetic variation. In the small minority of loci where major association signals correspond to nonsynonymous variation, we summarize studies defining their functional effects and implications for therapeutic targeting. Importantly, the large majority of GWAS-associated loci involve noncoding variation, many of which modulate levels of gene expression...
October 2015: Gastroenterology
C N Ekwunife, I G Nweke, I B Achusi, C U Ekwunife
Inflammatory bowel disease is an emerging disease burden in the developing world. In Nigeria there is a persisting perception among physicians that it is a very rare disease, and publications on it are sparse. Early manifestations of ulcerative colitis (UC) are therefore likely to be missed at many health institutions. This publication aims to contribute to the growing literature on UC among Nigerians. We present 3 cases of UC that were diagnosed at very late stages. It took a range of 2-7 years for the diagnosis to be made from onset of symptoms...
July 2015: Annals of Medical and Health Sciences Research
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
Stephan R Vavricka, Thomas Greuter, Michael Scharl, Gerassimos Mantzaris, Ariella B Shitrit, Rafal Filip, Konstantinos Karmiris, Christoph K Thoeringer, Hubert Boldys, Anne V Wewer, Henit Yanai, Cristina Flores, Carsten Schmidt, Revital Kariv, Gerhard Rogler, Jean-François Rahier
BACKGROUND: Cogan's syndrome (CSy) is a very rare autoimmune disorder, mainly affecting the inner ear and the eye, and is associated with inflammatory bowel disease (IBD). METHODS: This was a European Crohn's and Colitis Organisation (ECCO) retrospective observational study, performed as part of the CONFER project. A call to all ECCO members was made to report concomitant CSy and inflammatory bowel disease (IBD) cases. Clinical data were recorded in a standardized questionnaire...
October 2015: Journal of Crohn's & Colitis
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