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Being one of the versions of why the disease is found only in men, scientists believe it is due to the mutation with the X chromosome.
Courtesy | It can cause death in 40% of cases.
American scientists from the National Institutes of Health have discovered a new deadly disease in men, which they called Vexas, according to a study published in the journal in The New England Journal of Medicine.
It can lead to death in 40% of diagnosed cases.
Research indicates that people diagnosed with the new syndrome, caused by genetic mutations, have an autoinflammatory condition, with symptoms including fever, blood clots, and inflammation of cartilage, lung tissue, and blood vessels.
The latter is very important because when blood vessels become inflamed, they can affect the vital organs of the body.
These patients are really sick. They do not respond to any treatment, from high doses of steroids to various chemotherapies, “explained Dan Kastner, lead author of the study.
And he added that many have spent years from doctor to doctor looking for answers, which “is incredibly frustrating for these patients and terrifying for their families.”
Genetic mutation
The team identified somatic mutations in UBA1 genes in these patients.
Initially, they found it in three men, then in 22 others. After the completion of the study, the syndrome was detected in another 25 people.
Researchers believe the actual number of patients may be higher.
Being one of the versions of why the disease is found only in men, scientists call the connection of the mutation with the X chromosome.
They believe that the second X chromosome can somehow protect women from the mutation.
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