Monogenic Cases of Infantile IBD with Discrete Pathological Pathways: a Case Series

Nida Mirza, Raja Gulfam Shaikh


Objective − Inflammatory bowel disease (IBD) is a multifactorial auto-immune disease caused by dysregulated immune responses, resulting in chronic intestinal inflammation. IBD in which disease onset is before 2 years of age is known as Infantile IBD. As the disease is rare in this age group, it is often misdiagnosed as infective or allergic colitis. Cases − We present here a case series of three patients with infantile IBD with completely different etiologies, that is, a mutation in the distinct pathways, i.e. the hematological lineage pathway (IL10 RA), autoimmunity (NLRC4), and immunodeficiency (IKBKG). All the cases had chronic diarrhea, however each case was difficult to diagnose conclusively and had a different response to the standard treatment protocol for IBD.

Conclusion − Our case series shows that genetic mutations and/or primary immunodeficiency play an important etiological role in this subgroup of IBD (infantile onset). It also highlights that patients with infantile IBD are difficult to diagnose, treat, and usually do not respond to conventional treatment.


Infantile IBD; Monogenic IBD; Pediatric Chronic Diarrhea

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