National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

BENTA disease


Other Names:
B-cell expansion with NF-kB and T-cell anergy disease; B-cell expansion with NFKB and T-cell anergy
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]   
Last updated: 8/4/2017

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  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;. http://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:http://www.jimmunol.org/content/198/1_Supplement/59.7.
  4. B-cell expansion with NFKB and T-cell anergy. OMIM. 2016; http://omim.org/entry/616452.