Researchers discover otulipenia, a new inflammatory disease

National Institutes of Health researchers have discovered a rare and sometimes lethal inflammatory disease – otulipenia – that primarily affects young children. They have also identified anti-inflammatory treatments that ease some of the patients’ symptoms: fever, skin rashes, diarrhea, joint pain and overall failure to grow or thrive. Otulipenia is caused by the malfunction of OTULIN, a single gene on chromosome 5. When functioning properly, OTULIN regulates the development of new blood vessels and mobilization of cells and proteins to fight infection. NIH researchers published their findings Aug. 22, 2016, in the early edition of the Proceedings of the National Academy of Sciences. Contributing to the work were researchers from the National Human Genome Research Institute (NHGRI), the National Institute of Allergy and Infectious Diseases, the National Institute of Arthritis and Musculoskeletal and Skin Diseases, the National Heart, Lung, and Blood Institute and the NIH Clinical Center, all part of NIH, along...