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Familial HLH subtypes and associated gene defects
| HLH Subtype | Genetic defect | Protein function | References |
|---|---|---|---|
| FHL1 | 9q21.3-locus 6 | unknown | (11) |
| FHL2 | PFR1 | pore forming cytolytic protein | (12) |
| FHL3 | UNC13D | secretion of cytolytic granules | (10) |
| FHL4 | STX11 | intracellular vesicle transport | (13) |
| FHL5 | (UNC18B) | membrane fusion | (14) |
FHL = familial HLH
HLH = hemophagocytic lymphohistiocytosis
