Table 2 Summary of genetic test results... | American Society of Hematology

Table 2

Summary of genetic test results in 1531 patients with suspected HLH

Patients			Sequence variants found*
Patients			PRF1		MUNC13-4		STXBP2		Total no. of variants	Variants found in patients, %
Age, y	Count	% of total	2 variants	1 variant	2 variants	1 variant	2 variants	1 variant	Total no. of variants	Variants found in patients, %
0-1	415	27	70	32	27	47	1	5	182	44
1-5	483	32	16	31	13	37	9	5	111	23
5-12	241	16	0	16	2	15	6	5	44	18
12-18	217	14	3	21	2	10	2	5	43	20
18+	175	11	7	11	2	5	1	1	27	15
Total	1531	100	96	111	46	114	19	21	407	27

Patients			Sequence variants found*
Patients			PRF1		MUNC13-4		STXBP2		Total no. of variants	Variants found in patients, %
Age, y	Count	% of total	2 variants	1 variant	2 variants	1 variant	2 variants	1 variant	Total no. of variants	Variants found in patients, %
0-1	415	27	70	32	27	47	1	5	182	44
1-5	483	32	16	31	13	37	9	5	111	23
5-12	241	16	0	16	2	15	6	5	44	18
12-18	217	14	3	21	2	10	2	5	43	20
18+	175	11	7	11	2	5	1	1	27	15
Total	1531	100	96	111	46	114	19	21	407	27

In some patients, mutations and sequence variants were found in > 1 gene.