Homozygous null mutations in fact cause a profound combined immunodeficiency, heterozygous dominant-negative LOF mutations cause combined immunodeficiency with severe atopic disease, and heterozygous GOF mutations instead cause B-cell expansion with nuclear factor kappa B (NF-κB) and T-cell anergy (BENTA) disease51–55,63,64. Here, NFKB1 is linked to Immunodeficiency.