Table 10.
NGS studies on common variable immunodeficiency (CVID) and other primary immunodeficiency (PID).
| Study | Syndrome | Approach (Coverage) | N | Mendelian casesa | Functional study |
|---|---|---|---|---|---|
| Maffucci et al. (13) | CVID | WES (NA), 269 genes(NA) | 50 | 15 | No |
| van Schouwenburg et al. (12) | CVID | WGS (27-40X) | 34 | NA | RNAseq |
| This work (2018) | CVID | WES (120X), CNV | 36 | 5–8 | CTLA4, LRBA |
| Gallo et al. (79) | PID | 571 genes (580X), WES (>10X) | 45 | 27, 18 | 10 Genes |
| Stoddard et al. (78) | PID | 173 genes (305X) | 120 | 18 | No |
| Stray-Pedersen et al. (77) | PID, CVID | WES (>100X) | 278, 20 | 110, 8 | No |
| Al-Mouse et al. (80) | PID | 162 genes (461X) | 139 | 35 | No |
| Yu et al. (81) | SCID | 196 genes (1000X) | 20 | 14 | No |
aReported in the original study.
NA, not available.