Inflammatory bowel disease–like conditions: monogenic gastrointestinal disorders

Abbreviations

CD

Crohn’s disease

GI

gastrointestinal

IBD

inflammatory bowel disease

IL10RA

interleukin 10 receptor-α

IPEX

immune dysregulation, polyendocrinopathy, enteropathy, X-linked

LRBA

LPS-responsive beige-like anchor protein

VEOIBD

very early–onset inflammatory bowel disease

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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