Scientists Mary Brunkow and Fred Ramsdell, while studying “scurfy” mice suffering from severe autoimmune disease, discovered that a single faulty gene — FOXP3 — was responsible.
FOXP3 functions as a master switch that converts normal T cells into regulatory T cells (Tregs). These cells suppress harmful immune reactions and maintain tolerance to the body’s own tissues.
When FOXP3 is absent or defective, Tregs fail to develop, leading to uncontrolled immune attacks. In humans, this defect causes IPEX syndrome, a rare but fatal autoimmune disorder.
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