NIH researchers discover otulipenia, a new inflammatory disease
Rare and sometimes lethal disease affects young children
The just-discovered otulipenia is a rare and sometimes lethal inflammatory disease that causes fever, skin rashes, diarrhea and joint pain in young children. NHGRI
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 with their colleagues in Turkey and the United Kingdom.
“The results have been amazing and life changing for these children and their families,” said Daniel Kastner, M.D., Ph.D., co-author and 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.” Cells use biological pathways to send and receive chemical cues in reaction to injury, infection or stress.
Otulipenia is one of several inflammatory diseases that occur when the immune system attack