B-Cell Expansion with NFKB and T-Cell Anergy

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by heterozygous germline gain-of-function mutation(s) in the CARD11 gene, encoding caspase recruitment domain-containing protein 11. It is characterized by splenomegaly and lymphocytosis resulting from polyclonal expansion of B-cells.

**Synonyms:** - BENTA - CARD 11/BENTA