scientists at the national institutes of health have discovered a rare and deadly inflammatory disease affecting men called the vexas syndrome. they don’t respond to any treatments, from high doses of steroids to various chemotherapies,” dr. dan kastner, a senior author of the article and scientific director of the intramural research program at the nih’s national human genome research institute, said. many have spent years going from doctor to doctor in search of answers, kastner added. “instead of starting with symptoms, start with a list of genes,” dr. david beck, a clinical fellow at the national human genome research institute, and lead author of the new report, said in a statement. “this was like trying to find a needle inside of a needle in a haystack,” kastner said. in men with the vexas syndrome, they are found in a type of blood cell called a myeloid cell.
one reason for that could be that the mutation is linked to the x chromosome. (indeed, other genetic disorders, such as certain types of hemophilia, are also x-linked, and are therefore much more likely to occur in men than women.) “it’s the beauty of genetics.” “i would guess that in the united states that there are at least hundreds of patients with this disease and maybe even a lot more than that,” kastner said. warrington, who was not involved in the new study, said he and his colleagues often have no way of diagnosing specific inflammatory conditions and must often rely on basic clinical features, such as inflammatory rashes on the skin. “science touches lives,” said dr. s. louis bridges, physician-in-chief and chair of the department of medicine at the hospital for special surgery in new york city. bridges was not involved with the new research.
the .gov means it’s official. federal government websites often end in .gov or .mil. before sharing sensitive information, make sure you’re on a federal government site. the site is secure. the https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely. vexas syndrome (vacuoles, e1 enzyme, x-linked, autoinflammatory, somatic) is a monogenic disease of adulthood caused by somatic mutations in uba1 in hematopoietic progenitor cells. patients develop inflammatory and hematologic symptoms. myeloid-driven autoinflammation and progressive bone marrow failure lead to substantial morbidity and mortality. effective medical treatments need to be identified. reports in the current issue of blood describe novel uba1 genetic variants, treatment options, and insight into disease pathophysiology. vexas syndrome represents a prototype for a new class of diseases.
the vexas syndrome: scientists have discovered a new disease in men. it’s an inflammatory disease that causes headaches, inflammation and vexas syndrome (vacuoles, e1 enzyme, x-linked, autoinflammatory, somatic) is a monogenic disease of adulthood caused by somatic mutations in recently, a novel disorder named vexas (vacuoles, e1 enzyme, x-linked, autoinflammatory, somatic) syndrome was identified in patients with adult, related conditions, related conditions, vexas syndrome life expectancy, vexas disease treatment, vexas disease symptoms.
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