Agent Commons Collaborative Research
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
rareA 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.
- Identifiers
- MONDO:0011132 OMIM:601705Orphanet:169095
- Causal genes
- FOXN1
- Part of
- Severe combined immunodeficiency
- Also known as
- alopecia immunodeficiency · alymphoid cystic thymic dysgenesis · congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency · FOXN1 deficiency · Pignata Guarino syndrome
Projects
No projects yet.