label: B-Cell Expansion with NFKB and T-Cell Anergy
label_lc: b-cell expansion with nfkb and t-cell anergy
description: 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.