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BENTA disease
Disease definition
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.
ORPHA:464336
Classification level: Disorder- Synonym(s):
- B-cell expansion with NF-kB and T-cell anergy disease
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Infancy
- ICD-10: D81.8
- OMIM: 616452
- UMLS: C4551967
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2021) Français (2021) Nederlands (2021)
Detailed information
Guidelines
- Clinical practice guidelines
- Français (2022) - PNDS
produced/endorsed by ERN(s) produced/endorsed by FSMR(s)Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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