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Discovery of a rare human gene mutation that causes MAIT cells to disappear – Medical Xpress

A collaboration between Monash Health, the Australian Genomics Health Alliance (AGHA) and researchers at the Monash Biomedicine Discovery Institute has led to the discovery of a rare single gene mutation in a patient that eliminates an immune cell population,…

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A collaboration between Monash Health, the Australian Genomics Health Alliance (AGHA) and researchers at the Monash Biomedicine Discovery Institute has led to the discovery of a rare single gene mutation in a patient that eliminates an immune cell population, namely MAIT cells.
This study’s journey began with a patient of Dr. Samar Ojaimi from Monash Health who presented with a mild primary immunodeficiency with no known cause. He was identified as a candidate for the Genetic Immunology Flagshi…

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