NIH Scientists Identify Gene Linked to Fatal Inflammatory Disease in Children

Investigators have identified a gene that underlies a very rare and devastating autoinflammatory condition in children. Several existing drugs have shown therapeutic potential in laboratory studies, and one is currently being studied in children with the disease, which the researchers named STING-associated vasculopathy with onset in infancy (SAVI). The findings appeared online in the New England Journal of Medicine. The research was done at the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), part of the National Institutes of Health.

“Not only do these discoveries have profound implications for children with SAVI, but they could have a broader impact by helping us to understand other, more common inflammatory conditions,” said NIAMS Director Stephen I. Katz, MD, PhD. “Diseases such as lupus share some characteristics with SAVI, so this work may lead to novel insights and possibly new treatments for these debilitating conditions, as well.”

To read more, click here.