T-cell immunodeficiency with epidermodysplasia verruciformis

Orpha code: 324294OMIM code: 618307

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.

Disease data
Classification

Disease

Synonyms
T-cell immunodeficiency due to RHOH deficiency
Niedobór odporności T-komórkowej z powodu deficytu RHOH
ORPHA code
324294
OMIM code
618307
ICD10 code
D84.8
ICD11 code
-

No additional description.

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