Early-onset inflammatory bowel disease caused by mutant IL10 receptor

Methods We performed genetic linkage analysis and candidate gene sequencing in two unrelated consanguineous families with children affected by early-onset IBD. We screened six additional patients for mutations in two candidate genes and carried out functional assays in patients’ peripheral blood mononuclear cells. We treated one patient with an allogeneic hematopoietic stem cell transplant (HSCT).