Figure 1.

A novel NFKB2 mutation and NF-κB sequence alignments. (A) Sanger sequencing revealed a heterozygous c.2563 A>T (p.855: Lys>^∗) mutation (arrow) in NFKB2 gene of the proband. This variation was not identified in her parents. (B) NF-κB p100 C-terminus amino acid sequence alignments. Lysine 855, highlighted in blue, serves as an acceptor for ubiquitination. Serine 866 and 870, highlighted in yellow, are phosphorylation sites that lead to proteolysis. (C) NFKB2 transcripts in peripheral blood mononuclear cells from proband and a healthy control were quantified by real-time PCR.