Term Name: | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
---|---|
Synonyms: | alymphoid cystic thymic dysgenesis, severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome, winged helix deficiency |
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. |
Ontology: | Human Disease [DOID:0060769] ( DOID:0060769 ) |