T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
MONDO:0032928Mondo
Findings
No curated finding names T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
6 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.
- Abnormally low T cell receptor excision circle levelHPOHP:0031545
- 21 of 21 reported patients · Congenital onset
- Decreased total T cell countHPOHP:0005403
- 21 of 21 reported patients · Congenital onset
- Nail dystrophyHPOHP:0008404
- 10 of 25 reported patients · Infantile onset
- PneumoniaHPOHP:0002090
- 5 of 25 reported patients · Infantile onset
- Atopic dermatitisHPOHP:0001047
- 3 of 25 reported patients · Infantile onset
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- Infantile onset
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
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Moderate · Ambry Genetics · Autosomal dominant · 2023
Where it sits
- A kind of