Table 1.
Sequence analysis initially focused on the genes related to congenital HLH
| Gene | Chr | Phenotype | Inheritance pattern | OMIM |
|---|---|---|---|---|
| PRF1 | 10q22.1 | FHL2 | AR | 603,553 |
| UNC13D | 17q25.1 | FHL3 | AR | 608,898 |
| STX11 | 6q24.2 | FHL4 | AR | 603,552 |
| STXBP2 | 19p13.2 | FHL5 | AR | 613,101 |
| RAB27A | 15q21.3 | GS2 | AR | 603,868 |
| SH2D1A | Xq25 | XLP1 | XL | 308,240 |
| XIAP | Xq25 | XLP2 | XL | 300,635 |
| MAGT1 | Xq21.1 | XMEN | XL | 300,853 |
| AP3B1 | 5q14.1 | HPS2 | AR | 608,233 |
| ITK | 5q33.3 | LPFS1 | AR | 186,973 |
| CD27 | 12p13.31 | LPFS2 | AR | 186,711 |
| LYST | 1q42.3 | CHS | AR | 606,897 |
| NLRC4 | 2p22.3 | AIFEC | AD | 606,831 |