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- B7ca1119378b1b590b6c926b3a6e2472b hasDbXref "GARD:0013339" @default.
- B7ca1119378b1b590b6c926b3a6e2472b type Axiom @default.
- B7ca1119378b1b590b6c926b3a6e2472b annotatedProperty IAO_0000115 @default.
- B7ca1119378b1b590b6c926b3a6e2472b annotatedSource MONDO_0014645 @default.
- B7ca1119378b1b590b6c926b3a6e2472b annotatedTarget "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." @default.