Table 1 (abstract P1079). See text for description
From: 10th Congress of International Society of Systemic Auto-Inflammatory Diseases (ISSAID)
Patient (gender, age at testing) | CAPS phenotype | NGS | Gene | aa change | Type |
|---|---|---|---|---|---|
1- M, 8y | CINCA | ADS | NLRP3 | p.F566L | Mosaic 14.5% |
2-M, 8y | MWS | ADS | NLRP3 | p.E567K | Mosaic3.1% |
3-M, 1y | MWS | ADS | NLRP3 | p.G564D | Mosaic 12.5% |
4 -M, 2y | CINCA | WES | NLRP3 | p.G779V | Heterozygous |
5-F, 16y | CINCA-like | WES | NOD2 | p.D512Y | Heterozygous |
6- M, 14y | MWS-like | WES | IL36RN | p.S113L | Heterozygous(AR) |
7- M, 8y | MWS | WES | AP1S3 | p.F4C | Heterozygous |
8- F, 2y | MWS | WES | - | - | - |