(B cell E
xpansion with N
F-κB and T
nergy) 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.
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.
Last updated: 8/4/2017