NIH researchers discover otulipenia, a new inflammatory disease
Rare and sometimes lethal disease affects young children
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.
This page was last updated on Friday, January 21, 2022