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monogenetic ibd

Cuifang Zheng, Ying Huang, Ziqing Ye, Yuhuan Wang, Zifei Tang, Junping Lu, Jie Wu, Ying Zhou, Lin Wang, Zhiheng Huang, Haowei Yang, Aijuan Xue
Background : Mutations in tumor necrosis factor alpha-induced protein 3 (TNFAIP3), a key player in the negative feedback regulation of nuclear factor-κB signaling, have recently been recognized as leading to early onset autoinflammatory and autoimmune syndrome. Here, we have reported the phenotypes of 3 infantile onset intractable inflammatory bowel disease (IBD) patients with TNFAIP3 mutations and reviewed previously reported cases to establish phenotypic features associated with TNFAIP3 monogenicity...
May 17, 2018: Inflammatory Bowel Diseases
Elif Sag, Ferhat Demir, Mustafa Emre Ercin, Mukaddes Kalyoncu, Murat Cakir
Neonatal inflammatory bowel disease (IBD) is a subclass of very early onset IBD that includes children younger than 1 month. It is characterized by more colonic involvement and monogenetic etiology, resistance to classical anti-inflammatory/immunomodulatory treatments and associated with colitis in first-degree family members. Herein we report a 3 month-old girl who was admitted with bloody diarrhea since 10 days of age. Her symptoms persist despite diet elimination. She was diagnosed with neonatal ulcerative colitis (UC) based on clinical, laboratory and histopathological examination...
January 2018: Rheumatology International
Lei Zhu, Tingting Shi, Chengdi Zhong, Yingde Wang, Michael Chang, Xiuli Liu
Very early onset inflammatory bowel disease (VEO-IBD) is a unique disease entity with a complex genetic susceptibility in affected patients. Next-generation gene sequencing techniques have revealed various monogenetic mutations contributing to the pathogenesis of VEO-IBD, including interleukin 10 (IL-10) and IL-10 receptor (IL-10R) mutations. In this article, we reviewed the features of and effective therapeutic options for VEO-IBD with IL-10 and/or IL-10R mutations. The IL-10 signal pathway inhibits the release of several key cytokines and thereby has a significant anti-inflammatory effect in the gastrointestinal tract...
April 2017: Gastroenterology Research
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
Ulrich Salzer, Klaus Warnatz, Hans Hartmut Peter
Common variable immunodeficiency (CVID) describes a heterogeneous subset of hypogammaglobulinemias of unknown etiology. Typically, patients present with recurrent bacterial infections of the respiratory and gastrointestinal tract. A significant proportion of CVID patients develops additional autoimmune, inflammatory or lymphoproliferative complications. CVID is the most frequent symptomatic primary immunodeficiency encountered in adults. Informative monogenetic defects have been found in single patients and families but in most cases the pathogenesis is still elusive...
September 24, 2012: Arthritis Research & Therapy
Frank M Ruemmele
PURPOSE OF REVIEW: 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. RECENT FINDINGS: There are excellent epidemiological data indicating that the incidence of pediatric IBD, mainly Crohn's disease, is still increasing over the last decades, with indicators of more extensive and more severe disease presentations in children compared to adults, also reflected by higher levels of humoral immune responses...
July 2010: Current Opinion in Gastroenterology
H J Freeman
The familial occurrence of lymphocytic colitis in a female parent and her two female children is reported. No other genetically based disorder, including celiac disease, was evident. For both children, the age of diagnosis was more than two decades younger than the age of recognition of disease in the parent, and some clinical features, including the requirement for pharmacological agents in both children, suggested that their disease severity was more significant than that of the involved parent. These characteristics of a familial disease have been previously reported and labelled 'genetic anticipation' in some monogenetic forms of neurological disease, as well as in other types of inflammatory bowel diseases, including Crohn's disease...
November 2001: Canadian Journal of Gastroenterology, Journal Canadien de Gastroenterologie
M F Picco, S Goodman, J Reed, T M Bayless
BACKGROUND: The term genetic anticipation is used when genetically transmitted disease manifests at increasingly younger ages with each succeeding generation: that is, if the offspring of patients develop the disease, they will tend to do so at an earlier age than their parents. In some monogenetic disorders, genetic anticipation has a biological basis in expanded genetic triplet repeats; however, some have claimed that it occurs in polygenic disorders, such as Crohn disease, in which its mechanism cannot be explained...
June 19, 2001: Annals of Internal Medicine
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