T-cell immunodeficiency, congenital alopecia, and nail dystrophy
MeSH: C536781ORPHA: 169095
Overview
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
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with T-cell immunodeficiency, congenital alopecia, and nail dystrophy, sourced from HPO and Orphanet clinical annotations.
Nail pitsRidged nailImmunodeficiencyDecreased total T cell countCongenital alopecia totalis
Classification & Codes
MeSH Code
C536781Orphanet Code
ORPHA:169095T-cell immunodeficiency, congenital alopecia, and nail dystrophy
| MeSH | C536781 |
| Orphanet | ORPHA:169095 |
| Treatments | 0 drug(s) |
| Symptoms on record | 5 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO