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early-onset inflammatory bowel disease

Thursday 12 January 2012

Early onset inflammatory bowel diseases; (EO-IBD)

Definition : Early onset inflammatory bowel diseases (EO-IBD) developing during the first year of life are likely to reflect inherited defects in key mechanism(s) controlling intestinal homeostasis, as recently suggested for interleukin 10 (IL10).

Impaired IL10 signaling characterizes a subgroup of IBD patients, whereas the majority of children with severe IBD including EO forms normally produces and responds to IL10.

Defective IL22 signaling may additionally impair intestinal epithelial clearance.


- inflammatory bowel disease-28 (IBD28) (MIM.613148) is caused by mutation in the IL10RA gene (146933)

See also

- IL10RB-associated enterocolitis

  • Inflammatory bowel disease-25 (IBD25) (MIM.612567) can be caused by mutation in the IL10RB gene (MIM.123889) encoding the IL10R2 protein which, together with the IL10R1 protein encoded by IL10RA, forms the heterotetrameric IL10 (MIM.124092) receptor.

- neonatal colitis

  • XIAP-associated neonatal colitis


- Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease. Begue B, Verdier J, Rieux-Laucat F, Goulet O, Morali A, Canioni D, Hugot JP, Daussy C, Verkarre V, Pigneur B, Fischer A, Klein C, Cerf-Bensussan N, Ruemmele FM. Am J Gastroenterol. 2011 Aug;106(8):1544-55. PMID: 21519361

- Glocker, E.-O., Kotlarz, D., Boztug, K., Gertz, E. M., Schaffer, A. A., Noyan, F., Perro, M., Diestelhorst, J., Allroth, A., Murugan, D., Hatscher, N., Pfeifer, D., and 16 others Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. New Eng. J. Med. 361: 2033-2045, 2009. [PubMed: 19890111]