TLDR FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
Nude severe combined immunodeficiency was a rare inherited disease caused by autosomal recessive loss-of-function mutations in the FOXN1 gene, which was crucial for thymus development and T-cell maturation. Only nine cases had been reported, characterized by severe T-cell immunodeficiency, congenital alopecia universalis, and nail dystrophy. Diagnosis depended on identifying FOXN1 mutations, aiding genetic counseling and treatment planning. Treatment options included HLA-matched genoidentical haematopoietic cell transplantation or thymus tissue transplantation. Early diagnosis and management were critical for better outcomes, as the prognosis was poor without intervention due to life-threatening infections.
9 citations,
March 2015 in “International reviews of immunology” Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
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.
103 citations,
January 2011 in “Blood” Thymus transplantation successfully restored immune function in infants with FOXN1 deficiency.
22 citations,
January 2009 in “Advances in experimental medicine and biology” FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
26 citations,
May 2007 in “Differentiation” Foxn1 helps skin cells mature by controlling a specific protein's activity.
58 citations,
November 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” The Foxn1 gene is essential for normal nail and hair development.
53 citations,
August 2019 in “American journal of human genetics” FOXN1 gene variants cause low T cells and immune issues from birth.
32 citations,
May 2012 in “PloS one” Thymic transplantation normalized some T-cells but not others, maintaining immune function.
7 citations,
January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” T-cell reconstitution after thymus transplantation can cause hair whitening and loss.
August 2023 in “International Journal of Molecular Sciences” Human skin xenografting could improve our understanding of skin development, renewal, and healing.
89 citations,
September 2010 in “Annual Review of Genomics and Human Genetics” The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
