Researchers discover otulipenia, a new inflammatory disease

NIH | AUGUST 25, 2016

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.

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

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.

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 infections).

The researchers found that the OTULIN gene was abnormal in the sick children, they studied the immune pathway in order to understand the mechanisms of disease and to improve treatment of these patients. They discovered a problem in the processing of a small protein, ubiquitin, which is critical to the regulation of many other proteins in the body, including immune molecules.

In the affected children, the inability to remove the ubiquitin proteins from various molecules resulted in an increased production of chemical messengers that lead to inflammation (inflammatory cytokines).

The researchers determined that the children with otulipenia might respond to drugs that turned off tumor necrosis factor, a chemical messenger involved in systemic inflammation. Inflammation subsided in the children who had been treated with anti-tumor necrosis factor drugs (TNF inhibitors). TNF inhibitors are also used to treat chronic inflammatory diseases such as rheumatoid arthritis.

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