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)
- 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.
- 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]