Table 1.

Lymphocyte cytotoxicity genes linked to HLH and MAS

Gene	Function	Genetic deficiency	Variants associated with MAS?
PRF1	Pore formation	FHL-2	Yes
UNC13D	Vesicle maturation and regulation of secretion	FHL-3	Yes
STX11	Vesicle targeting and fusion	FHL-4	Yes
STXBP2	Vesicle fusion, interacts with Syntaxin-11	FHL-5	Yes
RAB27A	Vesicle docking and protein transport	Griscelli syndrome type 2	Yes
AP3B1	Vesicle trafficking, organelle biogenesis	Hermansky–Pudlak syndrome	No
LYST	Vesicle sorting and trafficking in endosomes	Chediak–Higashi syndrome	Yes