T-cell immunodeficiency, congenital alopecia, and nail dystrophy

Term ID

DOID:0060769

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. (3)

References

• ICD10CM:D82.8
• MESH:C536781
• MIM:601705
• ORDO:169095

Ontology

Human Disease   ( DOID:0060769 )