T-cell immunodeficiency, congenital alopecia, and nail dystrophy
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Definition
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.
Also known as alopecia immunodeficiency, alymphoid cystic thymic dysgenesis, FOXN1 deficiency, severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome, T-cell immunodeficiency, congenital alopecia, and nail dystrophy, winged helix deficiency — per MONDO