T-cell immunodeficiency with epidermodysplasia verruciformis
Synonyms: T-cell immunodeficiency due to RHOH deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | T-cell immunodeficiency with epidermodysplasia verruciformis | T-cell immunodeficiency due to RHOH deficiency |
| fr | Déficit immunitaire à cellules T avec épidermodysplasie verruciforme | Déficit immunitaire à cellules T par déficit en RHOH |
| de | T-Zell-Immundefekt mit Epidermodysplasia verruciformis | T-Zell-Immundefekt durch RHOH-Mangel |
| es | Inmunodeficiencia de células T con epidermodisplasia verruciforme | Inmunodeficiencia de células T por deficiencia de RHOH |
| it | Immunodeficienza delle cellule T con epidermodisplasia verruciforme | Immunodeficienza a cellule T da deficit di RHOH |
| nl | T-cel-immuundeficiëntie met epidermodysplasia verruciformis | T-cel-immuundeficiëntie door RHOH-deficiëntie |
| pt | Imunodeficiência de células T com epidermodisplasia verruciforme | |
| pl | Niedobór odporności T-komórkowej z nabłonkową dysplazją brodawkowatą | Niedobór odporności T-komórkowej z powodu deficytu RHOH |
| cs | T-buněčná imunodeficience s epidermodysplasia verruciformis | T-buněčná imunodeficience způsobená RHOH deficitem |
| uk | Т-клітинний імунодефіцит з веррукоподібною епідермодисплазією | Т-клітинний імунодефіцит, спричинений дефіцитом RHOH |
| zh | T细胞免疫缺陷伴疣状表皮发育不良 | RHOH缺陷所致T细胞免疫缺陷 |
| tr | Epidermodisplazi verruciformis ile seyreden T hücre immün yetmezliği | RHOH eksikliğine bağlı T hücre immün yetmezliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618307 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| MONDO | 0017925 | E | validated | |
| UMLS | C4749500 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:718079Combined immunodeficiency with normal B cells and normal immunoglubulins
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:183710Genetic susceptibility to infections due to particular pathogens
rare genetic diseases; rare immunological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RHOH | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:686 | ENSG00000168421 | 602037 | 4p14 | ras homolog family member H | 22850876[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 22850876[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324294
- This record as JSON: /data/d/324294.json