A rare primary immunodeficiency with characteristics of 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. [from SNOMEDCT_US]
- MedGen UID:
- 1648416
- •Concept ID:
- C4749500
- •
- Disease or Syndrome