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

Czech version

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.