RIPK1 mutations in humans linked to IBD, arthritis

A study published in Science provides the first glimpse of clinical outcomes of receptor-interacting serine-threonine kinase 1 (RIPK1; RIP1) deficiency in humans, a target sought after by at least two companies trying to curb its kinase activity.

The University of Cambridge-led study identified RIPK1 mutations that prevented the protein's expression in four patients who had lymphopenia, early-onset inflammatory bowel disease, arthritis and experienced recurrent viral, bacterial and fungal infections...