Table 1.

Genetic and clinical characteristics of patients with FHL

Patient	Sex	Age	PRF1	UNC13D	STX11	NK function in lytic units*	Perforin MCF NK cells†
P33	Female	2 months	50delT + Q481P	ND	ND	0.0	0.0
P35	Male	7 years	hV50M	ND	ND	9.2	57
P59	Male	3 months	h50delT	ND	ND	0.0	0.0
P1002	Female	9 years	wt	wt	wt	57.4	501
P101	Male	6 years	wt	wt	wt	15.3	440
P66	Female	15 years	wt	wt	wt	0.1	100
P76	Male	5 years	wt	wt	wt	13.3	634
P92	Female	1 months	wt	1993(−2) a > c + wt	wt	1.0	552
P98	Male	1 months	wt	wt	wt	0.0	781
P94	Male	5 years	wt	wt	wt	0.0	181
P96	Male	16 months	wt	wt	wt	7.4	404

^*Normal controls: 5-35 lytic units (mean, 11.3 lytic units).

^†Normal controls: 244-502 MCF.