Employees of the National Institutes of Health of the United States have discovered a rare inflammatory disease in children, caused by a genetic mutation - stupidity.
At the same time, researchers proposed an effective method for its treatment, as reported by UPI.
Otulipenia (otulipenia) is characterized by severe systemic inflammation.
The disease was confirmed in four young children.
On the pages of the PNAS, scientists said that the stool is well treatable with an anti-inflammatory drug, which is usually prescribed for rheumatoid arthritis.
The cause of the disease is the dysfunction of the OTULIN gene, responsible for the growth of new blood vessels and the mobilization of proteins and cells to fight infections.
"The disruption of the work of this gene was previously associated with diseases of the immune system. Our discovery gave impetus to the development of innovative therapy for inflammatory diseases, "said Dr. Ivona Aksentijevich, a geneticist at the National Institute for the Study of the Human Genome.
After confirming the diagnosis in four children (the main criterion is the mutation of the OTULIN gene), the scientists found out that the problem is in violation of the production of ubiquitin protein, an important "controller" of immune molecules in the body.
Because of gene dysfunction, the immune system of sick children was not working properly. A powerful inflammatory process developed with heat, rash, diarrhea, joint pains, a general disorder and weakness.
The most effective drugs in stunning were modern biological agents-inhibitors of tumor necrosis factor (TNF).
They quickly suppressed the inflammatory process and normalized the health of sick children.
"The results of the treatment were amazing, they changed the lives of children and their families. We managed to achieve the most important goal - to help young patients with a new ailment return to a full life. We comprehended the biological mechanisms of sedation and learned to regulate the immune response, "summed up the high-profile study by Dr. Daniel Kastner, director of the Institute.
medbe. en.