Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Features include always present findings: Decreased total T cell count and Abnormally low T cell receptor excision circle level; and common findings: Nail dystrophy. 6 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 2 | Atopic dermatitis, Nail dystrophy |
FOXN1 encodes forkhead box N1 (648 aa). Transcriptional regulator which regulates the development, differentiation, and function of thymic epithelial cells (TECs) both in the prenatal and postnatal thymus. Highest expression in Skin Sun Exposed Lower leg (64.3 TPM) and Skin Not Sun Exposed Suprapubic (58.3 TPM).
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant is associated with mutations in the FOXN1 gene on chromosome 17.
FOXN1 is classified as a druggable target (Kinase and Transcription Factor categories) with score 0.0.
Genetic testing for FOXN1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features, 1 common feature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant.
14 publications have been identified in PubMed for T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant. Research spans Case Report / Case Series (54%), Review / Meta-Analysis (31%), and Basic Science / Preclinical (15%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 7 | 54% |
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 2:53 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Common questions about T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
2 |
Recurrent upper respiratory tract infections, Pneumonia |
Blood and immune system | 1 | Recurrent upper respiratory tract infections |
Age of onset: infancy, at birth.
Research summaries |
4 |
31% |
Laboratory research | 2 | 15% |
Stefani C (2026). [PMID: 41747876](https://pubmed.ncbi.nlm.nih.gov/41747876/). *Gene*. [Basic Science / Preclinical]
Singh S (2026). [PMID: 40452322](https://pubmed.ncbi.nlm.nih.gov/40452322/). *Annals of African medicine*. [Case Report / Case Series]
Rietmann SJ (2026). [PMID: 41601192](https://pubmed.ncbi.nlm.nih.gov/41601192/). *Animal genetics*. [Case Report / Case Series]
Diociaiuti A (2026). [PMID: 40371845](https://pubmed.ncbi.nlm.nih.gov/40371845/). *Dermatology reports*. [Review / Meta-Analysis]
Singh S (2025). [PMID: 41190500](https://pubmed.ncbi.nlm.nih.gov/41190500/). *Annals of African medicine*. [Case Report / Case Series]
Paul L (2025). [PMID: 40721798](https://pubmed.ncbi.nlm.nih.gov/40721798/). *Orphanet journal of rare diseases*. [Review / Meta-Analysis]
Wang Z (2025). [PMID: 39969530](https://pubmed.ncbi.nlm.nih.gov/39969530/). *The British journal of dermatology*. [Basic Science / Preclinical]
Jangili B (2025). [PMID: 40469827](https://pubmed.ncbi.nlm.nih.gov/40469827/). *International journal of clinical pediatric dentistry*. [Case Report / Case Series]
McCarthy RL (2025). [PMID: 37766547](https://pubmed.ncbi.nlm.nih.gov/37766547/). *The Keio journal of medicine*. [Review / Meta-Analysis]
Huang X (2024). [PMID: 38790056](https://pubmed.ncbi.nlm.nih.gov/38790056/). *BMC medical genomics*. [Case Report / Case Series]