In addition, germline CARD11 mutations have been implicated in several primary immune disorders, including severe combined immunodeficiency (SCID) (OMIM 615206) caused by homozygous loss-of-function (LOF) mutations, B cell expansion with NF-κB and T cell Anergy (BENTA) (OMIM 616452) caused by heterozygous gain-of-function (GOF) mutations (7–9), and severe atopic disease (OMIM 617638) caused by heterozygous dominant negative (DN) mutations. Here, NFKB1 is linked to severe combined immunodeficiency.