Table 2.
Congenital immune deficiencies associated with HLH
| Immune deficiency | Genetic defect |
Protein function | Ref |
|---|---|---|---|
| Chédiak-Higashi syndrome | LYST | microtubule-assisted endosomal protein sorting | (16) |
| Hermansky-Pudlak S. type 2 | AP3B1 | protein trafficking, AP3 complex subunit | (18) |
| Griscelli syndrome type 2 | RAB27A | vesicle fusion and trafficking | (17) |
| XLP type 1 | SHD21A | involved in regulating SLAM signaling | (15) |
| XLP type 2 | BIRC4/XIAP | inhibits caspase 3 and 7 proteases | (19) |
| X-SCID | IL2RG | subunit of IL2,4,7,9,15,21 receptors | (20) |
| LPSA1 | ITK | mediates TCR activation of B-1-integrins | (21) |
X- SCID = X-linked severe combined immunodeficiency
XLP = X-linked lymphoproliferative disease
LPSA1 = lymphoproliferative syndrome type 1