has material basis in germline mutation in CARD11 inborn error of immunity hereditary disease BENTA disease https://www.malacards.org/card/b_cell_expansion_with_nfkb_and_t_cell_anergy OMIM:616452 B-cell expansion with NF-kB and T-cell anergy disease BENTA B-cell expansion with NFKB and T-cell anergy MEDGEN:1641265 GARD:0013339 UMLS:C4551967 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. Orphanet:464336 MONDO:0014645 non-SCID combined immunodeficiency