Global InformationBENTA disease information
| BENTA Disease | |
|---|---|
| Other names | B-cell expansion with NF-kB and T-cell anergy disease |
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| For each child an affected parent has, there is a 50% chance of passing on the mutation, regardless of the sex of the child autosomal dominant | |
| Specialty | Immunology |
BENTA disease is a rare genetic disorder of the immune system. BENTA stands for "B cell expansion with NF-κB and T cell anergy" and is caused by germline heterozygous gain-of-function mutations in the gene CARD11 (see OMIM entry #607210). This disorder is characterized by polyclonal B cell lymphocytosis with onset in infancy, splenomegaly, lymphadenopathy, mild immunodeficiency, and increased risk of lymphoma. Investigators Andrew L. Snow and Michael J. Lenardo at the National Institute of Allergy and Infectious Diseases at the U.S. National Institutes of Health first characterized BENTA disease in 2012. Dr. Snow's current laboratory at the Uniformed Services University of the Health Sciences is now actively studying this disorder.[1][2]
- ^ Turvey, SE; Durandy, A; Fischer, A; Fung, SY; Geha, RS; Gewies, A; Giese, T; Greil, J; Keller, B; McKinnon, ML; Neven, B; Rozmus, J; Ruland, J; Snow, AL; Stepensky, P; Warnatz, K (2014). "The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency". The Journal of Allergy and Clinical Immunology. 134 (2): 276–84. doi:10.1016/j.jaci.2014.06.015. PMC 4167767. PMID 25087226.
- ^ Snow, A. L.; Xiao, W.; Stinson, J. R.; Lu, W.; Chaigne-Delalande, B.; Zheng, L.; Pittaluga, S.; Matthews, H. F.; Schmitz, R.; Jhavar, S.; Kuchen, S.; Kardava, L.; Wang, W.; Lamborn, I. T.; Jing, H.; Raffeld, M.; Moir, S.; Fleisher, T. A.; Staudt, L. M.; Su, H. C.; Lenardo, M. J. (5 November 2012). "Congenital B cell lymphocytosis explained by novel germline CARD11 mutations". Journal of Experimental Medicine. 209 (12): 2247–2261. doi:10.1084/jem.20120831. PMC 3501355. PMID 23129749.