Table 18 (abstract P240). See text for description
From: Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two
Patient | Clinical CAPS phenotype | Gene | Exon | Mutation | Type | Sanger detection | MPS detection | VIP detection | WES detection |
|---|---|---|---|---|---|---|---|---|---|
1- ♂, 8y | MWS | NLRP3 | 3 | p.E567K | Mosaic 4% | No | Yes | Yes | No |
2- ♂, 7y | MWS | NLRP3 | 3 | p.F566L | Mosaic 14.5% | No | Yes | Yes | Yes |
3- ♂, 2y | CINCA | NLRP3 | 5 | p.G779V | Heterozygous | No | No | Yes | Yes |
4-♀, 16y | CINCA | NOD2 | 4 | p.D512Y | Heterozygous | No | No | Yes | Yes |