# Novel Lipopolysaccharide-Responsive Vesicle Trafficking, Beach- and Anchor-Containing (LRBA) Gene Mutation Identified in a Pediatric Patient: A Case Report

## TL;DR

A 10-year-old girl with a rare genetic disorder caused by LRBA gene mutations showed symptoms like seizures, immune issues, and inflammation, highlighting the importance of early diagnosis.

## Contribution

This case report identifies a novel LRBA gene mutation in a pediatric patient with complex clinical manifestations.

## Key findings

- The patient exhibited early-onset hypogammaglobulinemia, autoimmunity, and inflammatory bowel disease.
- Novel LRBA gene mutations were associated with seizures and septic shock in the patient.
- Prompt recognition of LRBA deficiency is crucial for timely management and improved outcomes.

## Abstract

Homozygous mutations in the lipopolysaccharide-responsive vesicle trafficking, beach- and anchor-containing (LRBA) gene lead to a syndrome characterized by early-onset hypogammaglobulinemia, autoimmunity, lymphoproliferation, and inflammatory bowel disease. This report describes a 10-year-old female who experienced three seizure episodes, including two generalized tonic-clonic seizures (GTCS) and one focal seizure, alongside septic shock. The patient had a history of recurrent respiratory tract infections, inflammatory bowel disease, multiple blood transfusions, lymphadenopathy, significant organomegaly, and hematological abnormalities, all consistent with an LRBA deficiency. This case highlights the critical need for prompt recognition and identification of LRBA gene mutations to enable timely management and improve patient outcomes.