Table 2.
Frequency of the NLRP3 mutations identified among different cell populations established by amplicon-based deep sequencing.
| Isolated cells | Patient 1 p.Y563C | Patient 2 p.Y563C | Patient 3 p.Y563C | Patient 4 p.A532T | Patient 5 p.G569V | Patient 6 p.E567K | Patient 7 p.E567Q | Patient 8 p.G564D | Control p.A439V |
|---|---|---|---|---|---|---|---|---|---|
| MAF (%) in whole blood | 5.1a; 27b; 45c | 3.3 | 11.1 | 14.6 | 21.2 | 5.4 | 15 | 5.0 | 56.3 |
| MAF (%) in neutrophils | 36.2b | 7.4 | 10.7 | 16.2 | 21.8 | 12.3 | ND | ND | 53.2 |
| MAF (%) in monocytes | 44.8b | 6.6 | 10.6 | 14.9 | 23.2 | 11.0 | ND | ND | 55.2 |
| MAF (%) in B cells | 15.4b | 0.6d | 6.6 | 12.3 | 17 | 7.1 | ND | ND | 54.2 |
| MAF (%) in T cells | 11.4b | 0.4d | 1.6 | 4.8 | 1.5 | 1.6 | ND | ND | 52.1 |
| MAF (%) in saliva | 20.5b | 6.1 | 12.3 | 14.9 | 14.3 | 3.1 | ND | ND | 54.4 |
| MAF (%) in buccal cells | 20.5b | 1.7 | 2.7 | 7.2 | 3.9 | 0.7d | ND | ND | 47.1 |
| MAF (%) in DNA isolated from other sources | 0.6 in urined | None | None | None | None | 0.4 in urined | None | None | None |
In Patient 1, DNA was isolated from blood samples obtained in a2004; b2013; and c2016.
dResults under the threshold of 1% were considered to be false positives.
ND, not done.