Table 2.
Genetic causes of hemophagocytic lymphohistiocytosis (HLH) and associated rapid flow cytometric screening tests.
| Disease | Gene | Protein | Rapid screening test |
|---|---|---|---|
| Familial HLH 2 | PRF1 | Perforin | Perforin expression |
| Familial hemophagocytic lymphohistiocytosis (FHL) 3 | UNC13D | Munc13-4 | CD107a |
| FHL 4 | STX11 | Syntaxin 11 | CD107a |
| FHL 5 | STXBP2 | Munc18-2 | CD107a |
| X-linked lymphoproliferative disease type 1 (XLP1) | SH2D1A | Signaling lymphocytic activation molecule-associated protein (SAP) | SAP expression |
| X-linked lymphoproliferative disease type 2 (XLP2) | XIAP/BIRC4 | X-linked inhibitor of apoptosis (XIAP) | XIAP expression, NOD2 Signaling, IL-18 levels |
| Griscelli syndrome | RAB27A | Rab27a | CD107a |
| Chediak–Higashi syndrome | LYST | LYST | CD107a |
| Hermansky–Pudlak syndrome type 2 | AP3B1 | AP3 | CD107a |
| NLRC4 mutation | NLRC4 | NLR family, CARD domain-containing protein 4 (NLRC4) | IL-18 levels |
| CD27 deficiency | CD27 | CD27 | |
| ITK deficiency | ITK | IL-2 Inducible T-Cell Kinase (ITK) | |
| X-linked immunodeficiency with magnesium defect, Epstein–Barr virus infection, and neoplasia disease (XMEN disease) | MAGT1 | Magnesium transporter 1 (MAGT1) |