T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Findings
No curated finding names T-cell immunodeficiency, congenital alopecia, and nail dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0011132), read 2026-09-29. CC BY 4.0.
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Congenital alopecia totalisHPOHP:0005597
- Very frequent (80% to 99% of cases)
- Decreased total T cell countHPOHP:0005403
- Very frequent (80% to 99% of cases)
- ImmunodeficiencyHPOHP:0002721
- Very frequent (80% to 99% of cases)
- Nail pitsHPOHP:0001803
- Very frequent (80% to 99% of cases)
- Ridged nailHPOHP:0001807
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FOXN1HGNC:12765
- Definitive · ClinGen · Semidominant · 2021
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Semidominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: T-cell immunodeficiency, congenital alopecia, and nail dystrophy
- Also called
- alopecia immunodeficiencyalymphoid cystic thymic dysgenesisFOXN1 deficiencysevere T-cell immunodeficiency-congenital alopecia-nail dystrophy syndromewinged helix deficiency