To review existing knowledge and new discoveries in the genetic aetiology of extremely early onset inflammatory bowel disease pathogenesis (VEO-IBD) was the purpose of this study. IBD is a chronic gastrointestinal illness characterised by complex interplay between genetics, environment, immune system, and microbial flora. In genome-wide association studies, around 230 IBD risk loci have been identified, although the genetic contribution of the bulk of these loci to IBD manifestation is relatively low. VEO-IBD patients have a more severe illness than older individuals, with a dismal prognosis and failure of standard treatment. Recent research has identified many monogenic illnesses with significant penetrance that appear as IBD or IBD-like intestinal symptoms and overlap with underlying immunodeficiencies. A growing amount of data suggests that heredity has a significant role in the development of VEO-IBD. New genetic variations and diagnoses in VEO-IBD are reviewed, as are current therapeutic difficulties and possible disease management strategies.
The functional study of the genes linked in monogenic IBD has improved understanding of the disease’s underlying pathobiological process. This knowledge may be utilised to tailor medicine to particular patients, therefore increasing the level of care and quality of life.
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