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.
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9 citations
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March 2015 in “International reviews of immunology” Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
69 citations
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January 2013 in “Frontiers in Immunology” The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
32 citations
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May 2012 in “PloS one” Thymic transplantation normalized some T-cells but not others, maintaining immune function.
103 citations
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January 2011 in “Blood” Thymus transplantation successfully restored immune function in infants with FOXN1 deficiency.
22 citations
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January 2009 in “Advances in experimental medicine and biology” FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
26 citations
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October 2007 in “Differentiation” Foxn1 helps skin cells mature by controlling a specific protein's activity.
58 citations
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December 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” The Foxn1 gene is essential for normal nail and hair development.