Interleukin 10/ Interleukin-10R Mutations Causing Very Early Onset Inflammatory Bowel Disease

Abstract

A unique disease entity called Very early onset inflammatory bowel disease [VEO-IBD] in which the affected patients show a complex genetic susceptibility. Various monogenic mutations which contribute to the pathogenesis of VEO-IBD have been attributed by gene sequencing techniques, including mutations in Interleukin 10 (IL-10) and Interleukin 10 receptor (IL-10R). The IL-10 pathway has an inhibitory effect on the release of several cytokines and hence, has an anti-inflammatory effect on the gastrointestinal tract. Among the reported patients with VEO-IBD in the world literature, mutations in the genes encoding for IL-10 and IL-10R have been detected. These patients present with symptoms of bloody diarrhea, significant weight loss, growth retardation and recurrent perianal abscesses, fistulas and fissures. Some patients may also have respiratory infections and folliculitis. As the therapeutic efficacy of immunosuppressive drugs is poor in these patients, it has been reported that allogenic hematopoetic stem cell transplantation (HSCT) can improve the symptoms significantly. However, in order to verify the efficacy and safety of this treatment, and the long term prognosis of VEO-IBD patients with IL-10/IL-10R mutations , further study and exploration is yet requires. In this article, we would conclude the importance for physicians to recognize the clinical phenotype of VEO-IBD and a mutational analysis of the IL-10/IL-10R can help in confirming the diagnosis and start early and effective treatment of this disease.