Details of Disease | DrugMAP

General Information of Disease (ID: DISPHUJV)

Disease Name	T-cell immunodeficiency with epidermodysplasia verruciformis
Synonyms	T-cell immunodeficiency due to RHOH deficiency
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.
Disease Hierarchy	DISNGCMN: Inborn error of immunity DISPHUJV: T-cell immunodeficiency with epidermodysplasia verruciformis
Disease Identifiers	MONDO ID MONDO_0017925 UMLS CUI C4749500 MedGen ID 1648416 Orphanet ID 324294 SNOMED CT ID 770785002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RHOH	OT1J9SEB	Supportive	Autosomal recessive	[1]
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References

1	Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections. J Clin Invest. 2012 Sep;122(9):3239-47. doi: 10.1172/JCI62949. Epub 2012 Aug 1.