Very-Early Onset Chronic Active Colitis with Heterozygous Variants in LRBA1 and CARD11, a Case of “Immune TOR-Opathies”

Abstract

Background

A small subset of cases of inflammatory bowel disease (IBD) occurs as a result of single gene defects, and typically occurs in young or very young pediatric patients, referred to as “monogenic very-early onset IBD (VEO-IBD)”. The gene variants leading to monogenic VEO-IBD are often associated with primary immunodeficiency syndromes.

Case report

A six year-old girl presented to our gastroenterology clinic with LRBA deficiency with a heterozygous mutation at c.1399 A > G, p Met467Val, histopathologic chronic active colitis without granulomas and clinical chronic colitis. Her gastrointestinal symptoms began at age 5 with bloody diarrhea, abdominal pain and weight loss. Whole exome sequencing revealed a CARD11 heterozygous de novo mutation (c.220 + 1G > A). She was in clinical remission on only abatacept.

Discussion

We present a case of monogenic VEO-IBD associated with two heterozygous variants in LRBA1 and CARD11, both considered as key players in the newly proposed “immune TOR-opathies”.

Keywords:

• Very early onset
• inflammatory bowel disease
• colitis
• monogenic
• LRBA1
• CARD11
• immune TOR-opathies

Funding

The author(s) reported there is no funding associated with the work featured in this article.