T-cell immunodeficiency, congenital alopecia, and nail dystrophy

A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.

Signs and symptoms

• Decreased total T cell count
• Alopecia
• Ridged nail
• Severe T-cell immunodeficiency
• Nail pits
• Nail dystrophy
• Decreased total CD4+ T cell proportion

Also known as: alymphoid cystic thymic dysgenesis; severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome; winged helix deficiency