Genetic defects in hemophagocytic lymphohistiocytosis.
| Disease . | Chromosome Location . | Associated Gene . | Gene Function . |
|---|---|---|---|
| Abbreviations: FHLH, familial hemophagocytic lymphohistiocytosis; GS, Griscelli syndrome; CHS, Chédiak-Higashi syndrome; XLP, X-linked lymphoproliferative syndrome | |||
| FHLH-1 | 9q21.3-22 | Not known | Not known |
| FHLH-2 | 10q21-22 | PRF1 | Induction of apoptosis |
| FHLH-3 | 17q25 | UNC13D | Vesicle priming |
| FHLH-4 | 6q24 | STX11 | Vesicle transport; t-SNARE |
| GS-2 | 15q21 | RAB27A | Vesicle transport; small GTPase |
| CHS-1 | 1q42.1-q42.2 | LYST | Vesicle transport; not further defined |
| XLP | Xq25 | SH2D1A | Signal transduction and activation of lymphocytes |
| Disease . | Chromosome Location . | Associated Gene . | Gene Function . |
|---|---|---|---|
| Abbreviations: FHLH, familial hemophagocytic lymphohistiocytosis; GS, Griscelli syndrome; CHS, Chédiak-Higashi syndrome; XLP, X-linked lymphoproliferative syndrome | |||
| FHLH-1 | 9q21.3-22 | Not known | Not known |
| FHLH-2 | 10q21-22 | PRF1 | Induction of apoptosis |
| FHLH-3 | 17q25 | UNC13D | Vesicle priming |
| FHLH-4 | 6q24 | STX11 | Vesicle transport; t-SNARE |
| GS-2 | 15q21 | RAB27A | Vesicle transport; small GTPase |
| CHS-1 | 1q42.1-q42.2 | LYST | Vesicle transport; not further defined |
| XLP | Xq25 | SH2D1A | Signal transduction and activation of lymphocytes |