Table 1.
Gene mutations and their impact on the development of HLH
| Disease | Mutated gene abbreviation | Subsequent abnormality |
|---|---|---|
| FHLH-1 | Unknown | Unknown |
| FHLH-2 | PRF1 | Lack of perforin or its abnormal function |
| FHLH-3 | UNC13D | Abnormal vesicle priming and secretion of cytotoxic granules |
| FHLH-4 | STX11 | Abnormal vesicle intracellular trafficking and membrane fusion/docking of cytotoxic granules |
| FHLH-5 | STXBP2 | Abnormal vesicle intracellular trafficking and membrane fusion/docking of cytotoxic granules |
| Chédiak-Higashi syndrome | LYST | Abnormal melanin and cytolytic enzyme granule biogenesis |
| Griscelli syndrome 2 | RAB27A | Abnormal docking of secretory granules |
| Hermansky-Pudlak syndrome type II | AP3B1 | Abnormal intracellular trafficking of cytolytic granules |
| XLP1 | SH2D1A (SAP) | Multiple abnormalities of cytotoxicity |
| XLP2 | BIRC4 (XIAP) | Abnormalities in signal transduction in NK and CTLs/vesicle trafficking |
According to Weitzman (2011)