Genetics and pedigrees of families with NFKB2 mutations. (A) Pedigrees and Sanger sequencing of families with NFKB2 mutations. Mutation status of NFKB2 c.1252G>T for family A, NFKB2 c.1903C>T for family B, and NFKB2 c.2596A>C for family C are indicated for each individual. Pedigree with those affected shown in black filled symbols. (B) Schematic of NF-κB2 with the Rel homology domain (RHD), nuclear localization signal (N), glycin-rich region (GR), ankyrin repeat domain (ARD), and death domain (DD). The amino acid sequence and location for affected individuals are shown with arrow.