Abstract
Very Early Onset Inflammatory Bowel Disease (VEO-IBD) represents a cohort of inflammatory bowel disease (IBD) patients diagnosed before 6 years of age. Unlike IBD diagnosed at older ages, VEO-IBD can be associated with underlying primary immunodeficiencies. VEO-IBD has been linked to monogenic variations in over 70 genes involved in multiple pathways of immunity. As sequencing technologies and platforms evolve and become readily available, an increasing number of genes linked to VEO-IBD have emerged. Although monogenic defects are rare in VEO-IBD, diagnosis of these variants can often dictate specific treatment. In this mini-review, we set out to describe monogenic variants previously characterized in multiple patients in the literature that contribute to VEO-IBD, diagnostic tools, unique treatment modalities for specific genetic diagnoses, and future directions in the field of VEO-IBD. Although this mini-review is by no means comprehensive of all the novel monogenic variants linked to VEO-IBD, we hope to provide relevant information that is readily accessible to clinicians and educators.
Highlights
Inflammatory bowel disease (IBD) which includes ulcerative colitis, Crohn disease, and indeterminate IBD, are autoimmune diseases of the gastrointestinal tract
Very Early Onset Inflammatory Bowel Disease (VEO-IBD) represents a subgroup of pediatric IBD diagnosed before the age of 6 years [3] with further subclassification into infantile-onset IBD when diagnosed before 2 years of age and neonatal-onset if diagnosed by 28 days of age [3]
A multi-disciplinary approach is required for a comprehensive evaluation of these patients including input from gastroenterology, immunology, genetics, and nutrition
Summary
Inflammatory bowel disease (IBD) which includes ulcerative colitis, Crohn disease, and indeterminate IBD, are autoimmune diseases of the gastrointestinal tract. While the etiopathogenesis of IBD is not fully elucidated, IBD is believed to be a result of an exaggerated host inflammatory response to the resident intestinal microbiome. Both genetic and environmental factors have been implicated in the development of IBD [1]. Genome-wide association studies (GWAS) reveal the involvement of over 260 loci in IBD. While the associated genotypic mutations are known, the mechanism by which most mutations contribute to disease phenotype development remains to be understood [1, 4]. Depending on the patient population, parental consanguinity can be associated with
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