Fig. 1.
Frequencies of NLRP3-, MEFV-, and TNFRSF1 low-penetrance variants. All patients had sequence variants in NLRP3 (exon 3, 4, 6), MEFV (exon 2, 3, 10), and/or TNFRSF1A (exon 2, 3, 4, 6) gene and were categorized due to their underlying mutation and their MS status (AID w/o or with MS). Pie charts demonstrate absolute numbers of mutations. a Red slices represent NLRP3 variants. b Green slices show different MEFV variants, while c TNFRSF1A variants are symbolized by blue charts. Homozygous variants are marked as +/+, heterozygous variants are labeled by +/− symbols