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BENTA Disease
BENTA Disease, which stands for "B-cell Expansion with NF-κB and T-cell Anergy," is a rare genetic disorder of the immune system caused by mutations in the CARD11 gene
Prevalence
<1 / 100 000
<330
US Estimated
<450
Europe Estimated
Age of Onset
Childhood
ICD-10
D84.8
D89.8
Inheritance Pattern
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
Rare View
BENTA disease is a rare primary immune dysregulation syndrome caused by heterozygous gain-of-function variants in CARD11, leading to chronic polyclonal B-cell lymphocytosis and lymphoproliferation starting in childhood. Patients may have lymphadenopathy/splenomegaly with variable infection susceptibility and immune dysfunction. Workup typically shows persistent B-cell expansion (immunophenotyping), and genetics confirms diagnosis while guiding monitoring for complications (including lymphoma risk).
5 Facts you should know
FACT
BENTA (Benign Ethnic Neutropenia of the African) Disease is a benign condition predominantly found in individuals of African descent, characterized by persistently low levels of neutrophils in the blood without associated infections or clinical symptoms
FACT
Neutropenia in BENTA results from genetic variations affecting neutrophil production and survival, specifically the gene ELANE, although other genetic factors might contribute
FACT
Diagnosis involves evaluating neutrophil levels persistently below the reference range, excluding secondary causes of neutropenia, and genetic testing to identify mutations in the ELANE gene
FACT
Individuals with BENTA generally remain asymptomatic, with no increased susceptibility to infections; hence, treatment is usually unnecessary, focusing on monitoring and educating patients about potential risks during severe infections
FACT
5
Recognizing BENTA is crucial to differentiate it from other forms of neutropenia, ensuring appropriate management strategies and avoiding unnecessary interventions
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Common signs & symptoms
Persistent lymphadenopathy and/or splenomegaly
Chronic polyclonal B-cell lymphocytosis on CBC/flow cytometry
Recurrent respiratory/ENT infections in some patients; variable hypogammaglobulinemia
Constitutional symptoms can occur but many patients are clinically stable
Longer-term concern: lymphoproliferative complications/lymphoma surveillance
Current treatments
Often supportive with careful monitoring (some patients need minimal intervention)
Immunoglobulin replacement for significant antibody deficiency/recurrent infections
Antimicrobial prophylaxis in selected cases
Targeted/immune-modulating therapy has been reported in limited cases (specialist-directed); monitoring for lymphoproliferation is key
Top Clinical Trials
| Title | Description | Phases | Status | Interventions | More Information |
|---|---|---|---|---|---|
| Conception of a Diagnosis, Prognosis and Therapeutic Decision Tool for Patients With Autoimmunity and Inflammation | The main objective of this study is to generate diagnosis and therapeutic-decision tools through the identification of molecular causes of PIDs with autoimmunity/inflammation and the variability in disease outcome at the transcriptional level using a combination of omics signatures (transcriptomics,... | Recruiting | Biological: Collection of samples | More Info |
References:
- NIAID. BENTA Disease (factsheet).
- Turvey SE, et al. The CARD11-BCL10-MALT1 (CBM) signalosome complex. J Allergy Clin Immunol. 2014.
- García-Martínez E, et al. From syndromic clues to diagnosis (discusses BENTA management/sirolimus reports). Front Immunol. 2025.