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monogenetic ibd

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...
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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