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very early onset inflammatory bowel disease

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
Neslihan Edeer Karaca, Guzide Aksu, Ezgi Ulusoy, Serap Aksoylar, Salih Gozmen, Ferah Genel, Sanem Akarcan, Nesrin Gulez, Tatjana Hirschmugl, Savas Kansoy, Kaan Boztug, Necil Kutukculer
Alterations of immune homeostasis in the gut may result in development of inflammatory bowel disease. A five-month-old girl was referred for recurrent respiratory and genitourinary tract infections, sepsis in neonatal period, chronic diarrhea, perianal abscess, rectovaginal fistula, and hyperemic skin lesions. She was born to second-degree consanguineous, healthy parents. Her elder siblings were lost at 4 months of age due to sepsis and 1 year of age due to inflammatory bowel disease, respectively. Absolute neutrophil and lymphocyte counts, immunoglobulin levels, and lymphocyte subsets were normal ruling out severe congenital neutropenia and classic severe combined immunodeficiencies...
2016: Case Reports in 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
Scott B Snapper
No abstract text is available yet for this article.
August 2015: Gastroenterology & Hepatology
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
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
Judith R Kelsen, Noor Dawany, Alejandro Martinez, Christopher M Grochowski, Kelly Maurer, Eric Rappaport, David A Piccoli, Robert N Baldassano, Petar Mamula, Kathleen E Sullivan, Marcella Devoto
No abstract text is available yet for this article.
2015: BMC Gastroenterology
Martina Girardelli, Serena Arrigo, Arrigo Barabino, Claudia Loganes, Giuseppe Morreale, Sergio Crovella, Alberto Tommasini, Anna Monica Bianco
BACKGROUND: Aggressive course and resistance to treatments usually characterize very early onset inflammatory bowel disease (VEO-IBD). Some VEO-IBD cases are due to monogenic immune defects and can benefit from hematopoietic stem cell transplantation (HSCT). CASE PRESENTATION: We describe a Caucasian male baby who presented in the first months of life macrophage activation syndrome, followed by intractable colitis, recurrent episodes of fever and mild splenomegaly...
2015: BMC Pediatrics
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
Seak Hee Oh, Jiwon Baek, Kyung Mo Kim, Eun-Ju Lee, Yusun Jung, Yeoun Joo Lee, Hyun-Seung Jin, Byong Duk Ye, Suk-Kyun Yang, Jong-Keuk Lee, Eul-Ju Seo, Hyun Taek Lim, Inchul Lee, Kyuyoung Song
BACKGROUND/AIMS: The aim of this study was to identify the profile of rare variants associated with Crohn's disease (CD) using whole exome sequencing (WES) analysis of Korean children with CD and to evaluate whether genetic profiles could provide information during medical decision making. METHODS: DNA samples from 18 control individuals and 22 patients with infantile, very-early and early onset CD of severe phenotype were used for WES. Genes were filtered using panels of inflammatory bowel disease (IBD)-associated genes and genes of primary immunodeficiency (PID) and monogenic IBD...
November 23, 2015: Gut and Liver
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
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
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