BENTA disease
Findings
No curated finding names BENTA disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N<l) and few memory B cells. Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines. BENTA disease is caused by mutations in the CARD11 gene. There is no established treatment, but some patients have their spleen removed and there is one case of a hematopoietic stem cell transplantation with good results.
Definition from the Mondo Disease Ontology (MONDO:0014645), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating IgA concentrationHPOHP:0002720
- 1 of 1 reported patient · Childhood onset
- Decreased specific antibody response to unconjugated polysaccharide vaccineHPOHP:0410299
- 2 of 2 reported patients
- Increased total B cell countHPOHP:0005404
- 1 of 1 reported patient · Infantile onset
- 4 of 4 reported patients
- Lymphoid hyperplasiaHPOHP:0034839
- 1 of 1 reported patient
- Recurrent infectionsHPOHP:0002719
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CARD11HGNC:16393
- Definitive · ClinGen · Autosomal dominant · 2022
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: BENTA disease
- Also called
- B-cell expansion with NF-kB and T-cell anergy disease