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Early-onset IBD due to genetic mutations

December's issue of the Inflammatory Bowel Diseases reports on the phenotypic characterization of very early-onset IBD due to mutations in the IL10, IL10 receptor alpha or beta gene.

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Early-onset inflammatory bowel disease starting within the first months of life could be due to a particular genetic defect.

Dr Bénédicte Pigneur and colleagues set up the GENetically determined ImmUne-mediated enteropathieS (GENIUS) network and collected infants with a proven defect of the IL10 axis for accurate phenotyping of disease presentation and evolution.

The team characterized 10 patients with early-onset inflammatory bowel disease with confirmed mutations in IL10, IL10RA, or IL10RB genes were characterized on clinical, endoscopic–histological, immunobiological, and radiological findings.

Functional assays to confirm defective responses to IL10 were performed on peripheral blood mononuclear cells.

Mutations in IL10 were more frequently associated with bacterial and viral infections
Inflammatory Bowel Diseases

A functional defect in IL10 signaling was confirmed in all IL10R patients tested.

The team found that the disease started with severe diarrhea within the first 12 weeks in all patients.

All infants showed Crohn's disease–like ulcerations limited to the colon with marked perianal inflammation.

The researchers observed that disease progression to the small bowel occurred in only 1 patient.

The team noted that 4 of the 10 patients had granulomata on histology, and all patients showed Crohn's disease–like mesenteric infiltration on imaging.

Disease pattern was indistinguishable between IL10R alpha or beta chain or IL10 defects.

Autoimmunity was not observed.

The research team found that mutations in IL10 were more frequently associated with bacterial and viral infections.

Patients responded partially to treatment with steroids or anti–tumor necrosis factor drugs, whereas hematopoietic stem cell transplantation proved efficacious.

Dr Pigneur's team concludes, "The importance of the IL10 pathway within the colonic mucosa is highlighted by the development of severe colitis within a few weeks in infants with mutations in IL10, IL10RA, or IL10RB."

"Immunosuppression failed to correct the defect in this pathway, which seems to be a key to controlling inflammation in the colon."

Inflamm Bowel Dis 2013: 19(13): 2820-2828
13 December 2013

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