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Defective IL-10 signalling and very-early-onset inflammatory bowel disease


Authors: R. Szépeová 1;  Z. Havlíčeková 1;  P. Lietava 2;  P. Bánovčin  ml. 2;  M. Jeseňák 1
Authors‘ workplace: Klinika detí a dorastu, Jes­seniova lekárska fakulta v Martine, Univerzita Komenského v Bratislave, Univerzitná nemocnica Martin, Slovenská republika 1;  Interná klinika – gastroenterologická, Jes­seniova lekárska fakulta v Martine, Univerzita Komenského v Bratislave, Univerzitná nemocnica Martin, Slovenská republika 2
Published in: Gastroent Hepatol 2015; 69(6): 536-540
Category: Pediatric Gastroenterology and Hepatology: Case report
doi: https://doi.org/10.14735/amgh2015536

Overview

Children experiencing the onset of symptoms before the age of 2 have a specific position among patients with inflammatory bowel disorders. This is a heterogeneous group of diseases, often with a different etiopathogenesis, phenotype, treatment response and prognosis compared to diseases developing in older children or adults. Diseases that can mimic inflammatory bowel diseases, especially primary immunodeficiencies, should be excluded in this age group. Authors present a case report of a patient with very early onset of IBD unresponsive to conventional therapy, caused by point mutation of the IL10R gene.

Key words:
interleukin-10 – interleukin-10 receptor – infant – inflammatory bowel diseases

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE „uniform requirements“ for biomedical papers.

 Submitted:
15. 10. 2015

 Accepted:
6. 11. 2015


Sources

1. Lebenthal EA, Branski DA, Walker-Smith JA. Early-onset inflam­matory bowel dis­ease: infant, toddler, and pre-school. In: Walker-Smith JA, Lebenthal E, Branski D (eds). Pediatric and inflam­matory bowel disease: perspective and consequences. Pediatr Adolesc Med. Basel: Karger 2009: 67–75.

2. Ledder O, Catto-Smith AG, Oliver MR et al. Clinical patterns and outcome of early-onset inflam­matory bowel disease. J Pediatr Gastroenterol Nutr 2014; 59(5): 562–564. doi: 10.1097/ MPG.0000000000000465.

3. Uhlig HH, Schwerd T, Koletzko S et al. The dia­gnostic approach to monogenic very early onset inflam­matory bowel disease. Gastroenterology 2014; 147(5): 990–1007. doi: 10.1053/ j.gastro.2014.07.023.

4. Glocker EO, Kotlarz D, Boztug K et al. Inflam­matory bowel disease and mutations af­fect­ing the interleukin-10 receptor. N Engl J Med 2009; 361(21): 2033–2045. doi: 10.1056/ NEJMoa0907206.

5. Begue B, Verdier J, Rieux-Laucat F et al. Defective IL10 signal­ing defin­ing a subgroup of patients with inflam­matory bowel disease. Am J Gastroenterol 2011; 106(8): 1544–1555. doi: 10.1038/ ajg.2011.112.

6. Glocker EO, Kotlarz D, Klein C et al. IL-10 and IL-10 receptor defects in humans. Ann N Y Acad Sci 2011; 1246: 102–107. doi: 10.1111/ j.1749-6632.2011.06339.x.

7. Kühn R, Löhler J, Ren­nick D et al. Interleukin-10-deficient mice develop chronic enterocolitis. Cell 1993; 75(2): 263–274.

8. Wolk K, Kunz S, Witte E et al. IL-22 in­creases the in­nate im­munity of tis­sues. Im­munity 2004; 21(2): 241–254.

9. Zheng Y, Valdez PA, Danilenko DM et al. Interleukin-22 mediates early host defense against attach­ing and ef­fac­ing bacterial pathogens. Nat Med 2008; 14(3): 282–289. doi: 10.1038/ nm1720.

10. Kotlarz D, Beier R, Murugan D et al. Loss of interleukin-10 signal­ing and infantile inflam­matory bowel disease: implications for dia­gnosis and therapy. Gastroenterology 2012; 143(2): 347–355. doi: 10.1053/ j.gastro.2012.04.045.

11. Moran CJ, Walters TD, Guo CH et al. IL-10R polymorphisms are as­sociated with very-early-onset ulcerative colitis. Inflamm Bowel Dis 2013; 19(1): 115–123. doi: 10.1002/ ibd.22974.

12. Beser OF, Conde CD, Serwas NK et al. Clinical features of interleukin 10 receptor gene mutations in children with very early-onset inflam­matory bowel disease. J Pediatr Gastroenterol Nutr 2015; 60(3): 332–338. doi: 10.1097/ MPG.0000000000000621.

13. Lee CH, Hsu P, Nanan B et al. Novelde novo mutations of the interleukin-10 re-ceptor gene lead to infantile onset inflam-­matory bowel disease. J Crohns Colitis 2014;8(11): 1551–1556. doi: 10.1016/ j.crohns.2014.04.004.

14. Buruiana FE, Solà I, Alonso-Coel­lo P. Recombinant human interleukin 10 for induction of remis­sion in Crohn’s disease. Cochrane Database Syst Rev 2010; 11: CD005109. doi: 10.1002/ 14651858.CD005109.pub3.

15. Engelhardt KR, Shah N, Faizura-Yeop Iet al. Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or with­out hematopoietic stem cell transplantation. J Al­lergy Clin Im­munol 2013; 131(3): 825–830. doi: 10.1016/ j.jaci.2012.09.025.

Labels
Paediatric gastroenterology Gastroenterology and hepatology Surgery

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