BENTA disease
Synonyms: B-cell expansion with NF-kB and T-cell anergy disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- Status
- active
A rare primary immunodeficiency characterized by infantile onset of generalized lymphadenopathy, splenomegaly, and lymphocytosis, with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life has been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | BENTA disease | B-cell expansion with NF-kB and T-cell anergy disease |
| fr | Maladie BENTA | Maladie d'expansion des cellules B et d'anergie des cellules T |
| de | BENTA-Krankheit | B-Zell-Expansion mit NF-kB- und T-Zell-Anergie-Krankheit |
| es | Enfermedad BENTA | Enfermedad de expansión de células B con NT-kB y anergia de células T |
| it | Malattia BENTA | |
| nl | BENTA-ziekte | B-cel-expansie met NF-kB- en T-cel-anergie-ziekte |
| pt | Doença BENTA | |
| pl | Choroba BENTA | = en |
| cs | BENTA nemoc | B-cell expansion with NF-kB and T-cell anergy disease · Expanze B-buněk s NF-kB a nemocí z anergie T-buněk |
| uk | Хвороба BENTA | Експансія В-клітин з NF-kB та Т-клітинною анергією |
| zh | BENTA疾病 | B细胞扩张伴NF-kB和T细胞无反应性疾 |
| tr | BENTA hastalığı | NF-kB ve T-hücre anerji hastalığına bağlı B hücre genişlemesi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616452 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4B0Y | NTBT | attributed | validated |
| MONDO | 0014645 | E | validated | |
| UMLS | C4551967 | E | validated | |
| GARD | 13339 | 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 (1):
- ORPHA:480549Non-severe combined immunodeficiency
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CARD11 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:16393 | ENSG00000198286 | 607210 | 7p22.2 | caspase recruitment domain family member 11 | 23129749[PMID]_25352053[PMID]_25930198[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25930198[PMID] |
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 25930198[PMID] |
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/464336
- This record as JSON: /data/d/464336.json