Table 3.
Genetic mutations described.
| Diseases | Number of patients | Mutations identified |
|---|---|---|
| SCID | 2 | IL2RG |
| 1 | IL2RG c.270-2A>T | |
| 1 | ADA | |
| 1 | PNP | |
| 1 | TTC7A | |
| 1 | ZAP70 | |
| DOCK8 deficiency | 2 | Large deletion in DOCK8 starting from exon 30- 48 |
| WAS | 1 | WAS c.290C>T |
| 1 | WAS c.400C>A | |
| 1 | WAS g. 1115–1119 delC | |
| 1 | WAS c.28C>T | |
| 1 | WAS c.264C>A | |
| XLA | 1 | BTK g. IVS9+1G>C |
| 1 | BTK g. 36712A>G | |
| 1 | BTK c.1888A>T | |
| 1 | BTK g.34430_34447 delCAAAGTCATGATgtgagt | |
| CD19 Deficiency | 1 | CD19 c.24delC |
| Griscelli Syndrome (Type 2) | 1 | RAB27A c.550C>T |
| CGD | 2 | NCF1 |
| 1 | CYBB | |
| Congenital neutropenia | 1 | ELANE c.640G>T |
| Autoinflammatory syndrome | 1 | NLRC4 c.1970A>T |