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