Table 2.
Gene mutations associated with primary HLH.
| Chromosome | Gene | Protein and/or function | |
|---|---|---|---|
| FHL | |||
| FHL 1 | 9q21.3–22 | Unknown | Unknown |
| FHL 2 | 10q22 | PRF1 | Perforin: apoptosis and cytotoxicity |
| FHL 3 | 17q25.1 | UNC13D | Munc13-4: exocytosis of granules |
| FHL 4 | 6q24 | STX11 | Generation of granules with SNAP23 |
| FHL 5 | 19p13.3–2 | STXBP2 | Syntaxin-binding protein 2 |
| XLP | |||
| XLP1 | Xq25 | SH2D1A | SAP: activation of lymphocytes |
| XLP2 | Xq25 | XIAP | XIAP: inhibitor of apoptosis |
| Griscelli syn II | 15q21 | RAB27A | Exocytosis of granules |
| Hermansky–Pudlak syn II | 5q14.1 | AP3B1 | AP3βchain: traffic from Golgi to granules |
| Chediak–Higashi syn | 1q42.1–2 | LYST | Transport of lysozome |
| ADA deficiency | 20q13.11 | ADA | Metabolism of nucleic acids |
| PHP deficiency | 14q13.1 | PNP | Metabolism of nucleic acids |
| IL-2Rα chain def. | 10p15–14 | IL-2RA | IL-2R: T cell activation and regulation |
| Common γ chain def. | Xq13 | IL-2RG | IL-2R: T cell activation and regulation |
| Wiskott–Aldrich syn | Xp11.23–22 | WASP | WASP: cytoskeleton |
| DiGeorge syn | 22q11.2 | DCGR | Unknown/various |
| XL-O-EDA-ID | X28 | NEMO | NEMO protein |
| XLA | Xq21.3-q22 | BTK | B cell maturation and proliferation |
| Hyper-lgD syn | 12q24 | MVK | Mevalonate kinase |
| Lysinuric pro. intolerance | 14q11.2 | SLC7A7 | Transport of amino acid |
| Multiple sulfatase def. | 3p26 | SUMF1 | FGE: transcriptional activation of sulfatase |
| Cobalamin C disease | 1p | MMACHC | Metabolism of vitamin B12 |
| Hott–Oram syn | 12q24.1 | TBX5 | promotes cardiomyocyte differentiation |