T-cell immunodeficiency with epidermodysplasia verruciformis
Findings
No curated finding names T-cell immunodeficiency with epidermodysplasia verruciformis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.
Definition from the Mondo Disease Ontology (MONDO:0017925), read 2026-09-29. CC BY 4.0.
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.
- RHOHHGNC:686
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: T-cell immunodeficiency with epidermodysplasia verruciformis
- Also called
- T-cell immunodeficiency due to RHOH deficiency