Table 1.
Variants and genotypes of patients with consistent or confirmatory genotype of autoinflammatory diseases (AIDs) by sequencing strategy: Sanger or next‐generation sequencing (NGS) (n = 18)
| Patients | Gene | Mutation c. | Mutation p. | rs ID | MAF (GnomAD) | Zygosity | Genotype interpretation |
|---|---|---|---|---|---|---|---|
| Sanger strategy | |||||||
| 18 | TNFRSF1A | c.361C>T | p.(Arg121Trp) | rs104895276 | n.a. | Heterozygous | Consistent |
| 20 | MVK | c.709A>T | p.(Thr237Ser) | rs104895366 | 1.804e‐5 | Compound heterozygous | Confirmatory |
| MVK | c.1129G>A | p.(Val377Ile) | rs28934897 | 0.001591 | |||
| 23 | MEFV | c.442G>C | p.(Glu148Gln) | rs3743930 | 0.06564 | Compound heterozygous | Consistent |
| MEFV | c.2082G>A | p.(Met694Ile) | rs28940578 | 0.0001263 | |||
| 27 | ADA2 | c.144del | p.(Arg49Glyfs*4) | rs199614299 | 3.25e‐5 | Compound heterozygous | Confirmatory |
| ADA2 | c.1348G>T | p.(Gly450Cys) | n.a. | 1.218e‐5 | |||
| 50 | MVK | c.709A>T | p.(Thr237Ser) | rs104895366 | 1.804e‐5 | Compound heterozygous | Confirmatory |
| MVK | c.1129G>A | p.(Val377Ile) | rs28934897 | 0.001591 | |||
| 59 | MEFV | c.1772T>C | p.(Ile591Thr) | rs11466045 | 0.01082 | Compound heterozygous | Consistent |
| MEFV | c.2080A>G | p.(Met694Val) | rs61752717 | 0.0002669 | |||
| 242 | MEFV | c.2040G>C | p.(Met680Ile) | rs28940580 | 0.0001056 | Compound heterozygous | Consistent |
| MEFV | c.442G>C | p.(Glu148Gln) | rs3743930 | 0.06564 | |||
| 288 | NOD2 | c.1759C>T | p.(Arg587Cys) | rs104895479 | 3.231e‐5 | Heterozygous | Confirmatory |
| NGS strategy | |||||||
| 54 | NLRC4 | c.188_189insT | p.(Glu64Argfs*4) | n.a. | n.a. | Heterozygous | Confirmatory |
| 63 | MVK | c.37A>C | p.(Lys13Gln) | n.a. | n.a. | Compound heterozygous | Confirmatory |
| MVK | c.1129G>A | p.(Val377Ile) | rs28934897 | 0.001591 | |||
| 66 | MEFV | c.1105C>T | p.(Pro369Ser) | rs11466023 | 0.01471 | Compound heterozygous | Consistent |
| MEFV | c.1105C>T | p.(Pro369Ser) | rs11466023 | 0.01471 | |||
| 83 | MEFV | c.442G>C | p.(Glu148Gln) | rs3743930 | 0.06564 | Compound heterozygous | Consistent |
| MEFV | c.2082G>A | p.(Met694Ile) | rs28940578 | 0.0001263 | |||
| 108 | NLRC4 | c.530C>G | p.(Thr177Ser) | n.a. | n.a. | Heterozygous | Confirmatory |
| 112 | DDX58 | c.1723C>T | p.(Arg575*) | rs371404578 | 1.627e‐5 | Heterozygous | Consistent |
| 141 | ADA2 | c.427delA | p.(Ile143Serfs*41) | n.a. | n.a. | Compound heterozygous | Confirmatory |
| ADA2 | c.973‐2A>G | SAV | rs139750129 | 0.0001266 | |||
| 164 | PSTPIP1 | c.748G>C | p.(Glu250Gln) | rs28939089 | n.a. | Heterozygous | Confirmatory |
| 166 | TNFAIP3 | c.(?‐1)_(*1_?)del | HTZ deletion | n.a. | n.a. | Heterozygous | Confirmatory |
| 203 | ADA2 | c.476G>A | p.(Cys159Tyr) | rs774636844 | 4.061e‐6 | Compound heterozygous | Confirmatory |
| ADA2 | c.1358A>G | p.(Tyr453Cys) | rs376785840 | 8.658e‐5 | |||
HTZ‐MAR = heterozygous mutation associated with autosomal recessive disorders; SAV = splice acceptor variant; n.a. = not available; MAF = minor allele frequency.