TLDR FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
The document discussed the human clinical phenotype associated with FOXN1 mutations, which result in severe combined immunodeficiency (SCID) characterized by congenital alopecia, nail dystrophy, and thymic defects. FOXN1, a gene crucial for thymus and skin epithelial cell function, plays a significant role in T-cell development. Mutations in FOXN1 lead to impaired thymocyte maturation, contributing to immunodeficiency. The study highlighted the potential of keratinocytes to support T-cell development in vitro, suggesting a novel role for the skin as a primary lymphoid organ. The chapter focused on the implications of FOXN1 and related FOX gene family members in immunological disorders involving T-cell abnormalities.
86 citations,
October 2005 in “Experimental Dermatology” The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.
745 citations,
February 1992 in “Trends in genetics” Hair follicles create different cell layers and proteins, controlled by various molecules.
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32 citations,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
17 citations,
June 2019 in “The journal of immunology/The Journal of immunology” A specific DNA region is crucial for Foxn1 gene expression in thymus cells but not in hair follicles.
16 citations,
October 2014 in “Cell death and disease” FoxN1 overexpression in young mice harms immune cell and skin development.
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69 citations,
January 2013 in “Frontiers in Immunology” The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
32 citations,
May 2012 in “PloS one” Thymic transplantation normalized some T-cells but not others, maintaining immune function.
