Very-early-onset inflammatory bowel disease with a partial RIPK1/ BPHL deletion in an infant

Abstract

Abstract The monogenic causes of very early-onset inflammatory bowel disease (VEO-IBD) have been defined by advanced genetic studies, which were usually related to primary immunodeficiencies. Receptor-interacting serine/threonine-protein kinase-1 RIPK-1 protein is an important signalling molecule in inflammation and cell death pathways. Its deficiency may lead to different clinical features, via immunodeficiency and/or inflammation. Here we discussed an infant with malnutrition, VEO-IBD, reccurrent infections and polyathritis, who had a partial deletion in RIPK1 gene, adjacent biphenyl hydrolase-like (BPHL) gene, and a homozygous p.Glu148Gln mutation in Mediterranean fever (MEFV) gene. The superimposing effect of immune dysregulation of these two defective genes may lead to severe clinical presentation of our patient.