Very-Early Onset Chronic Active Colitis with Heterozygous Variants in LRBA1 and CARD11, a Case of "Immune TOR-Opathies". (4th March 2023)

• Record Type: Journal Article
• Authors: He, Mai; Wong, Amanda; Sutton, Kimberly; Gondim, Mercia Jeanne Bezerra; Samson, Charles
• Is Part Of: Fetal and pediatric pathology. Volume 42:Number 2(2023)
• Page Start: 297
• Page End: 306
• Publication Date: 2023-03-04
• Subjects: Very early onset -- inflammatory bowel disease -- colitis -- monogenic -- LRBA1 -- CARD11 -- immune TOR-opathies; Pathology, Molecular -- Periodicals; Pediatrics -- Periodicals; Molecular biology -- Periodicals; Pediatric pathology -- Periodicals; Fetal Diseases -- pathology -- Periodicals; Infant, Newborn, Diseases -- pathology -- Periodicals; Pediatrics -- Periodicals; 618.92007
• DOI: 10.1080/15513815.2022.2088912
• Languages: English
• ISSNs: 1551-3815

Abstract

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".