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Diagnosis and Characterization of Endoscopic Findings in XIAP Deficiency

ABDRABOU, Shimaa Said Mohamed Ali 北海道大学

2022.03.24

概要

1.1 Inflammatory bowel disease (IBD) and monogenic IBD
Inflammatory bowel disease (IBD) is a diverse group of disorders with multifactorial etiology
affecting the intestines including Crohn’s disease (CD) and ulcerative colitis (UC)
(Hendrickson et al., 2002). CD can affect people at any age. However, most of cases are
diagnosed in adolescents and young adults at the age of 15-35 years. Approximately 10 percent
of cases are under the age of 18 years (Ponder and Long, 2013).
While monogenic IBD exhibits IBD symptoms mimicking CD or US due to single genetic
abnormality. Recent studies have reported increasing numbers of monogenic IBD caused by
mutations in various genes including XIAP, IL10R, FOXP3, CTLA4, LRBA, CYBB, WASP,
IKBKG, etc. especially in very early-onset IBD (VEO-IBD) (Nameirakpam et al., 2020;
Pazmandi and Kalinichenko, 2019).
For the diagnosis of monogenic IBD, whole exome sequence analysis (WES) and panel
sequence analysis of various genes responsible for IBD are recently available. However, the
proportion of monogenic IBD in VEO-IBD varies between centers and cohorts and ranges from
5-31% (Pazmandi and Kalinichenko, 2019). ...

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