BENTA disease
BENTA disease (B cell Expansion with N F-N:B 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/N<l) 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.
MONDO:0018814
non-SCID combined immunodeficiency
excluded_subClassOf
MONDO:0003778
inborn error of immunity
is_a
MONDO:0003847
hereditary disease
is_a
B-cell expansion with NF-kB and T-cell anergy disease
exact
B-cell expansion with NFKB and T-cell anergy
related
BENTA
related