T-cell immunodeficiency with epidermodysplasia verruciformis
T-cell immunodeficiency with epidermodysplasia verruciformis
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.
Also known as T-cell immunodeficiency due to RHOH deficiency — per MONDO