Orphanet: T cell immunodeficiency with epidermodysplasia verruciformis

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T-cell immunodeficiency with epidermodysplasia verruciformis

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • T-cell immunodeficiency due to RHOH deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: D84.8
  • OMIM: 618307
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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