/T-cell immunodeficiency, congenital alopecia, and nail dystrophy

T-cell immunodeficiency, congenital alopecia, and nail dystrophy

Rare Disease

MONDO:0011132

Also Known As

FOXN1 deficiencyT-cell immunodeficiency, congenital alopecia, and nail dystrophyalopecia immunodeficiencyalymphoid cystic thymic dysgenesissevere T-cell immunodeficiency-congenital alopecia-nail dystrophy syndromewinged helix deficiencyPignata Guarino syndromeT-cell immunodeficiency, congenital alopecia and nail dystrophycongenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency

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.