Immune dysregulation associated with very early-onset inflammatory bowel disease

Abstract

Inflammatory bowel disease (IBD) is a multifactorial disease caused by dysregulated immune responses to commensal or pathogenic microbes in the intestine, resulting in chronic intestinal inflammation. An emerging population of patients with IBD who present ≤5 years of age represent a unique form of disease, termed Very Early-Onset (VEO)-IBD, that can be phenotypically and genetically distinct from pediatric and adult-onset IBD. VEO-IBD may be associated with increased disease severity, aggressive progression, and poor responsiveness to most conventional therapies. Here, we discuss the phenotype of VEO-IBD, genetic variants associated with disease, and immunologic studies that can point to the contribution of specific genetic variants that lead to the development of this disease.