FOXN1 Deficient Nude Severe Combined Immunodeficiency
January 2017
in “
Orphanet journal of rare diseases
”
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.
