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Cytolytic pathway genes associated with HLH and MAS.
| Gene | Protein | Function |
|---|---|---|
| PRF1 | Perforin | Pore formation (23) |
| UNC13D | Munc13-4 | Vesicle priming (25) |
| STX11 | Syntaxin 11 | Vesicle docking (26) |
| STXBP2 | Munc18-2 | Vesicle membrane fusing (27) |
| LYST | Lysosomal trafficking regulator | Vesicle sorting (28) |
| RAB27A | Rab27a | Vesicle fusing (29) |
| AP3B1 | AP-3 | Vesicle trafficking (30) |
