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Published on: January 25, 2017
IL-10 and IL-10 receptor defects in humans
Erik-Oliver Glocker1, Daniel Kotlarz, Christoph Klein
1Institute of Medical Microbiology and Hygiene, University Hospital Freiburg, Germany.
Annals of the New York Academy of Sciences
|January 13, 2012
Summary
Early-onset inflammatory bowel disease (IBD) can be monogenic, caused by IL-10 or its receptor mutations. Hematopoietic stem cell transplantation offers successful treatment for these severe infant enterocolitis cases.
Area of Science:
- Gastroenterology
- Immunology
- Genetics
Background:
- Inflammatory bowel disease (IBD), encompassing Crohn's disease and ulcerative colitis, is a chronic condition.
- IBD is typically viewed as a complex disorder involving genetic and environmental factors affecting gut immunity.
- Early-onset IBD in infants presents unique challenges and potential distinct etiologies.
Purpose of the Study:
- To investigate the genetic basis of early-onset inflammatory bowel disease.
- To identify specific genetic mutations leading to severe infant enterocolitis.
- To explore therapeutic strategies for monogenic forms of IBD.
Main Methods:
- Genetic analysis of infants with severe intractable enterocolitis.
- Functional studies of Interleukin-10 (IL-10) and its receptor.
- Evaluation of hematopoietic stem cell transplantation (HSCT) outcomes.
Main Results:
- Identified monogenic causes for early-onset IBD, specifically mutations in IL-10 or its receptor.
- Demonstrated that these mutations result in a loss of IL-10 function, leading to severe enterocolitis.
- Showcased successful treatment of IL-10 or IL-10 receptor deficiency using HSCT.
Conclusions:
- Severe early-onset IBD in infants can stem from single-gene defects affecting the IL-10 pathway.
- Targeting the IL-10 pathway through genetic correction via HSCT is a viable and effective treatment.
- This highlights the importance of genetic diagnostics in pediatric IBD management.
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