NIH scientists have discovered a new inflammatory disease. | Courtesy of Shutterstock
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Amanda Rupp | Aug 24, 2016

NIH scientists reveal new inflammatory disease

A team of scientists at the National Institutes of Health (NIH) recently discovered a new inflammatory disease, otulipenia, which causes skin rashes, fever, joint pain and diarrhea in young children.

This rare and sometimes lethal illness is specific to young children. It is caused by Otulin malfunctions. Otulin is a gene located on chromosome 5 that balances the growth of new blood vessels and transfers cells and proteins to battle infections. When Otulin malfunctions, it causes otulipenia.

“The results have been amazing and life-changing for these children and their families,” Dr. Daniel Kastner, co-author and National Human Genome Research Institute (NHGRI) scientific director, said. “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.”

Otulipenia happens when the immune system begins to attack the tissues in its own body, mistaking the tissues for invading viruses or bacteria.

“The malfunction in this protein has not been previously linked to clinical disorders of the human immune system,” Dr. Ivona Aksentijevich, staff scientist in NHGRI's Medical Genetics Branch and study co-author, said. “This discovery suggests a direction that can be explored for development of new therapies for patients with a wide range of inflammatory diseases.”

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