BETHESDA, Md., Aug. 23 (UPI) -- Researchers discovered a rare inflammatory disease in children caused by a genetic mutation and may already have found an effective method for treating it, according to a new study.
The disease otulipenia, which causes significant inflammation in primarily young children, was identified in four children and treated with drugs used for patients with rheumatoid arthritis, say researchers at the National Institutes of Health in a study published in the Proceedings of the National Academy of Sciences.
Otulipenia is caused by a malfunction of the gene OTULIN, which is responsible for regulating new blood vessels and mobilizing cells and proteins to fight infection.
"The malfunction in this protein has not been previously linked to clinical disorders of the human immune system," Dr. Ivona Aksentijevich, staff scientist at the National Human Genome Research Institute, said in a press release. "This discovery suggests a direction that can be explored for development of new therapies for patients with a wide range of inflammatory diseases."
After identifying four children with the condition, and discovering the OTULIN gene was mutated in all four, the researchers found the mutation was causing the protein ubiquitin, important to the regulation of immune molecules, to not be processed properly.
With the protein sticking around in molecules, the immune systems of the children reacted, causing symptoms that include fever, rashes, diarrhea, joint pain and overall failure to grow or thrive -- all related to significant inflammation.
The researchers tested anti-tumor necrosis factor inhibitors in the children, which are used for chronic inflammatory diseases such as rheumatoid arthritis, finding inflammation subsided after treatment with the drugs.
"The results have been amazing and life changing for these children and their families," said Dr. Daniel Kastner, scientific director of the National Human Genome Research Institute and head of it'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."