An international team of researchers has reported the discovery of a new genetic disease, according to their data, in
The disease was named VEXAS after the first letters of the key concepts associated with it (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic).
VEXAS cause mutations in the UBA1 genes. Scientists note that the disorder they discovered explains the appearance of inflammatory syndromes in adults, which medicine had not previously associated with each other.
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“This is a very serious illness, patients do not respondno treatment - from high doses of steroids to various chemotherapies, ”the researchers note. They added that many patients have spent years visiting doctors, but have not been able to answer their concerns. "It is incredibly frustrating for these patients and terrifying for their families."
The team began searching for a disease from a list of morethan 800 genes associated with inflammation, then compared these genes with about 2,500 patients in the database of undiagnosed diseases. This method brought them to three men who were found to have the same mutation in the gene.
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