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A recent study shows that ruxolitinib, a drug targeting interferon-gamma (IFN-gamma), effectively alleviates symptoms of the rare autoimmune polyendocrine syndrome type 1 (APS-1) in both mice and humans, paving the way for new treatments for this and related diseases. 3D model of the drug ruxolitinib. Credit: NIAID A medication originally designed for some autoimmune disorders and cancers has been effective in treating symptoms of a rare genetic condition known as autoimmune polyendocrine syndrome type 1 (APS-1).

This finding emerged after researchers discovered that the syndrome correlates with increased levels of interferon-gamma (IFN-gamma), a protein that plays a role in immune responses. This discovery sheds light on the role of IFN-gamma in autoimmune diseases. The research, conducted by the National Institute of Allergy and Infectious Diseases , part of the National Institutes of Health , was published in the New England Journal of Medicin e.



In a three-stage study, conducted in mice and people, the researchers examined how APS-1 causes autoimmune disease. The syndrome is marked by dysfunction of multiple organs, usually beginning in childhood, and is fatal in more than 30% of cases. This inherited syndrome is caused by a deficiency in a gene that keeps the immune system’s T cells from attacking cells of the body, leading to autoimmunity; chronic yeast infections in the skin, nails, and mucous membranes; and insufficient production of hormones from endocrine organs, .

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