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Inflammatory bowel disease–like conditions: monogenic gastrointestinal disorders
Abbreviations
Crohn’s disease gastrointestinal inflammatory bowel disease interleukin 10 receptor-α immune dysregulation, polyendocrinopathy, enteropathy, X-linked LPS-responsive beige-like anchor protein very early–onset inflammatory bowel disease CD
GI
IBD
IL10RA
IPEX
LRBA
VEOIBD
Introduction
Very early–onset inflammatory bowel disease (IBD) (VEOIBD) refers to patients who have onset of disease before 6 years of age . The majority of patients in this group have monogenic defects. To date, there are approximately 50 genetic mutations that were found to be associated with monogenic IBD-like diseases, including mutations of IL10 , IL10RA , IL10RB , XIAP , LRBA , and TTC7A. On the other hand, pediatric patients with primary immunodeficiencies can have clinical presentations mimicking that in IBD.
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