Rare Gastroenterology News

Disease Profile

BENTA disease

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

B-cell expansion with NF-kB and T-cell anergy disease; B-cell expansion with NFKB and T-cell anergy

Summary

BENTA disease (B cell Expansion with NF-κB 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/μl) and few memory B cells.[1][2] Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines.[2] 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.[1][2][3][4]

References

  1. Buchbinder D, Stinson JR, Nugent DJ, et al. Mild B Cell Lymphocytosis in Patients with a CARD11 C49Y Mutation. The Journal of allergy and clinical immunology. 2015; 136(3):819-821. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4562870/.
  2. Arjunaraja S & Snow AL. Activated B cells from BENTA patients display intrinsic differentiation defects and resistance to apoptosis. J Immunol. May 1, 2016; 196 (1):93.6;. https://www.jimmunol.org/content/196/1_Supplement/193.6.
  3. Arjunaraja S, Malinverni C, Sukumar G, Quanchard J, Lott N, Dalgard C, Bornancin F & Snow AL. Enhanced survival of BENTA patient B cells is dependent on MALT1 protease activity. J Immunol. May 1, 2017; 198(1) 59.7:https://www.jimmunol.org/content/198/1_Supplement/59.7.
  4. B-cell expansion with NFKB and T-cell anergy. OMIM. 2016; https://omim.org/entry/616452.