Interleukin-10 Receptor Mutations and Severe Inflammatory Bowel Disease

Interleukin (IL)-10 is a cytokine that exerts immunosuppressive effects on a variety of cells such as T cells, B cells, and myeloid cells. In particular, IL-10 limits production of proinflammatory cytokines such as tumor necrosis factor α. Mice that are deficient in IL-10 or its receptor develop inflammatory disease in the intestine. However, in humans, the contribution of IL-10 deficiencies to inflammatory bowel disease (IBD) is unclear. In this study, investigators identified a role for IL-10 receptor mutations in the development of a severe form of Crohn disease in the infant children of two unrelated consanguineous families.

In the first family, two infant siblings born of parents who were first-degree cousins developed severe proctitis …