Genetic variants identified in PIDD at CMC
| . | HLH . | X-SCID . | Hyperimmunoglobulin E . | Agammaglobulinemia . | CGD . | SIOD . |
|---|---|---|---|---|---|---|
| STX11/PRF/UNC13D . | IL2RG . | STAT3 . | BTK . | CYBB . | ||
| Patients, N | 13 | 8 | 8 | 13 | 4 | 1 |
| Mutations, N | 4 | 3 | 2 | 5 | 0 | 0 |
| Mutations | PRF1 c.673 C>T (p.Arg225Tyr) | c.314 A>G (Y105C) | c.1144>T (p.R382W) | g.27580 G>T* | No mutation identified | No mutation identified |
| PRF1 c.82 C>T (p.Gly28Arg) | c.664 C>T (p.Arg222Cys) | c.49delA | ||||
| PRF1 c.133 G>T (p.Gly45Arg) | c.66795_66798delTTTG | |||||
| UNC13D | c.147 T>C | |||||
| c.1801_1807delTACAACG | g.25633 G>A* |
| . | HLH . | X-SCID . | Hyperimmunoglobulin E . | Agammaglobulinemia . | CGD . | SIOD . |
|---|---|---|---|---|---|---|
| STX11/PRF/UNC13D . | IL2RG . | STAT3 . | BTK . | CYBB . | ||
| Patients, N | 13 | 8 | 8 | 13 | 4 | 1 |
| Mutations, N | 4 | 3 | 2 | 5 | 0 | 0 |
| Mutations | PRF1 c.673 C>T (p.Arg225Tyr) | c.314 A>G (Y105C) | c.1144>T (p.R382W) | g.27580 G>T* | No mutation identified | No mutation identified |
| PRF1 c.82 C>T (p.Gly28Arg) | c.664 C>T (p.Arg222Cys) | c.49delA | ||||
| PRF1 c.133 G>T (p.Gly45Arg) | c.66795_66798delTTTG | |||||
| UNC13D | c.147 T>C | |||||
| c.1801_1807delTACAACG | g.25633 G>A* |