Loss-of-function of lipopolysaccharide-responsive beige-like anchor protein causes inflammatory bowel disease-a case report and literature review.

ABSTRACT:

Background

Most cases of childhood inflammatory bowel disease (IBD) are polygenic in origin, although a subset of patients exhibits monogenic etiologies. Some studies have identified the lipopolysaccharide-responsive beige-like anchor protein (LRBA) gene as a susceptibility gene, but the majority of research has focused on genetic mutations without extensive clinical data. Furthermore, there is a paucity of long-term data on pediatric patients receiving biologic therapy.

Case description

An 11-year-old female patient presented to the Gastroenterology Department with a 1-month history of chronic abdominal pain, diarrhea, and weight loss. Laboratory investigations revealed marked inflammation, anemia, hypoproteinemia, and elevated counts of naive B-cell. Endoscopic examination

SUBMITTER: Wang Z 

PROVIDER: S-EPMC12268475 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature