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A rare genetic defect that can trigger a range of diseases, from type 1 diabetes to alopecia (hair loss), helps to explain the imbalance of immune-regulator and killer cells in autoimmune diseases, researchers are reporting.
A mutation in the Aire gene causes APS1, a disease that causes two of three problems -- an underactive parathyroid, yeast infection of the
skin and/or mucous membrane, and adrenal gland insufficiency -- by the age 5, and up to 16 autoimmune diseases over a lifetime, the scientists from Medical College of Georgia said.
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That same mutation causes a defect in what are called iNKT cells, a type of regulatory cell that helps the immune system fight infections while suppressing errant T cells that mistakenly attack the body, the researchers said.
The discovery offers new options for treating or preventing APS1, or autoimmune polyglandular syndrome type 1, and potentially other autoimmune diseases as well, the researchers said. They reported their findings in the June issue of the journal Nature Medicine.
"Aire controls the development and function of iNKT cells,"
said Dr. Jin-Xiong She, director of the college's Center for Biotechnology
and Genomic Medicine and co-senior author of the study. "This relationship means that iNKT cells are critical to most autoimmune diseases and manipulating the iNKT cell population is one possible way to cure autoimmune disease."
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