NIH researchers discover a new inflammatory disease

Researchers from NIH, Turkey, and the United Kingdom report the discovery of a rare inflammatory disease, called otulipenia, that mainly affects young children.

Researchers from NIH, Turkey, and the United Kingdom report the discovery of a rare inflammatory disease, called otulipenia, that mainly affects young children. In addition, they have identified anti-inflammatory treatments that can ease some of the symptoms, including fever, skin rashes, diarrhea, joint pain, and overall failure to grow or thrive. The condition is caused by the malfunction of OTULIN, a single gene on chromosome 5 that regulates the development of new blood vessels and mobilization of cells and proteins to fight infection when working correctly. "The results have been amazing and life changing for these children and their families," said Daniel Kastner, MD, PhD, coauthor and National Human Genome Research Institute (NHGRI) scientific director and head of NHGRI's Inflammatory Disease Section. "We have achieved the important goal of helping these young patients and made progress in understanding the biological pathways and proteins that are important for the regulation of the immune system's responses." The study is published in the Proceedings of the National Academy of Sciences.