Details of Disease

General Information of Disease (ID: DISHWIL6)

Disease Name BENTA disease
Synonyms B-cell expansion with NFKB and T-cell anergy; BENTA; B-cell expansion with NF-kB and T-cell anergy disease
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.
Disease Hierarchy
DISNGCMN: Inborn error of immunity
DISHWIL6: BENTA disease
Disease Identifiers
MONDO ID
MONDO_0014645
UMLS CUI
C4551967
OMIM ID
616452
MedGen ID
1641265
Orphanet ID
464336
SNOMED CT ID
1179300002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CARD11 OTRCTLYC Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.