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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. A six year-old girl presented to our gastroenterology clinic with LRBA deficiency with a heterozygous mutation at c.1399 A &gt; 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 &gt; A). She was in clinical remission on only abatacept. 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”.

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