Mondo Description Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene.

Uniprot Description A primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B-cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency.