Online supplemental material

Fig. S1 shows the protein expression of pLOF mutant NFKB1 alleles. Fig. S2 shows the protein expression of in-frame mutant NFKB1 alleles. Fig. S3 shows the effect of p105 on TNF-induced NF-κB activation. Fig. S4 shows that none of the deleterious NFKB1 variants exert negative dominance and the absence of correlation between the activity and CADD, PolyPhen-2, and SIFT scores of NFKB1 alleles. Fig. S5 shows population genetics of human NFKB1 and a summary of NFKB1 variants in patients with CVID or related conditions. Table S1 lists NFKB1 variants in our and other databases of healthy and sick individuals. Table S2 lists the genotype and the phenotype in individuals with NFKB1 variants. Table S3 shows the alternative transcripts generated by NFKB1 splice-site variants. Table S4 lists the primers used for the amplification of NFKB1 genomic DNA. Data S1 illustrates NFKB1 splice-site variants and their corresponding alternative transcripts (described in Table S3), based on the results of exon trapping assays.