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Papers of the Week

2022 Jun 24

Fetal Pediatr Pathol

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


He M, Wong A, Sutton K, Gondim M J B, Samson C
Fetal Pediatr Pathol. 2022 Jun 24:1-10.
PMID: 35748740.


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.