Autosomal recessive hereditary disorder
Primary immune deficiency disorder
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T-cell immunodeficiency due to ras homolog family member H deficiency (disorder)
T-cell immunodeficiency with epidermodysplasia verruciformis
T-cell immunodeficiency due to RHOH deficiency
T-cell immunodeficiency due to ras homolog family member H deficiency
T-cell immunodeficiency due to RHOH (ras homolog family member H) deficiency
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.
T-cel-immuundeficiëntie met epidermodysplasia verruciformis
T-cel-immunodeficiëntie door RHOH-deficiëntie
Id770785002
StatusPrimitive
Pathological processAbnormal immune process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetD84.8
RuleTRUE
AdviceALWAYS D84.8
CorrelationSNOMED CT source code to target map code correlation not specified