T cell immunodeficiency, congenital alopecia, and nail dystrophy is a rare genetic disorder that results from a mutation in the FOXN1 gene. The titular phenotype associated with the disease is caused by lack of differentiation of epithelial cells that make up the thymus, surround hair follicles, and are involved in nail growth [1]. Without intervention, children with this disease die quite young due to their inability to fight infection. This disease was first found in mice in 1966 when it arose spontaneously in a lab. In humans, it wouldn't be characterized until 1996 when Claudio Pignato discovered siblings in southern Italy to have symptoms similar to that of the nude mouse [2].
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The thymus is the organ responsible for the maturation of T cells, a type of white blood cell responsible for adaptive immune response. The thymus does that through positively and negatively regulating T cells via its medullary (mTECs) and cortical epithelial cells (cTECs) respectively. Differentiation of thymic epithelial cells is regulated by the FOXN1 gene, resulting the thymus not forming in patients [4]
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