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NIH Record - National Institutes of Health

Researchers Discover New Inflammatory Disease

Against a blue background, a diagram of a skeleton shows areas of red inflammation.

The just-discovered otulipenia is a rare and sometimes lethal inflammatory disease that causes fever, skin rashes, diarrhea and joint pain in young children.

Photo: NHGRI

NIH researchers have discovered a rare and sometimes lethal inflammatory disease—otulipenia—that primarily affects young children. Scientists 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. Researchers published their findings Aug. 22 in the early edition of the Proceedings of the National Academy of Sciences.

Contributing to the work were researchers from NHGRI, NIAID, NIAMS, NHLBI and the Clinical Center, along with colleagues in Turkey and the United Kingdom.

“The results have been amazing and life-changing for these children and their families,” said study co-author Dr. Daniel Kastner, 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 attacks the host’s own tissues. Inflammation is the body’s natural response to invading bacteria or viruses. The body releases chemicals that cause blood vessels to leak and tissues to swell in order to isolate a foreign substance from further contact with the body’s tissues. Inflammatory diseases affecting the whole body are caused by mutations in genes like OTULIN that are part of a person’s innate immunity (the cells and proteins present at birth that fight 

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