Table 1 Clinical and laboratory... | American Society of Hematology

Table 1

Clinical and laboratory characteristics of the FHL patients subjected to gene-expression profiling

No.	Patients	Age of onset	Mutation	NK function (LU)	siL2R	Remarks
1	P33*	2 mo	PRF1, c.[50delT];c.[1442A > C] (p.L17fsX50);(p.Q481P)	0.0	28 855	FHL2; consanguinity; rapidly evolving; early onset; deceased
2	P59*	7 y	PRF1, c.[148G > A];c.[148G > A], p.V50M	9.2	69 543	FHL2; rapidly evolving; late onset
3	P35*	3 mo	PRF1, c.[50delT];c.[50delT] (p.L17fsX50)	0.0	43 042	FHL2; consanguinity; rapidly evolving; early onset; received HSCT
4	P1002†	9 y	NM	57.4	57 432	Unknown genetic cause; late onset; relapse
5	P101†	6 y	NM	15.3	23 563	Unknown genetic cause; consanguinity late onset; relapse
6	P66†	15 y	STXBP2, c.[511G > T];c[?], p.[168V > L]	0.1	19 743	Unknown genetic cause; late onset; relapse; received HSCT
7	P76†	5 y	NM	13.3	NA	Consanguinity; rapidly evolving form; late onset
8	P92†	1 mo	NM	1.0	21 030	Rapidly evolving form; early onset; received HSCT
9	P94†	1 mo	NM	0.0	16 203	Rapidly evolving form; early onset
10	P96†	5 y	NM	0.0	48 543	Rapidly evolving form; late onset; received HSCT
11	P98†	16 mo	NM	7.4	3904	Rapidly evolving form; early onset; received HSCT

No.	Patients	Age of onset	Mutation	NK function (LU)	siL2R	Remarks
1	P33*	2 mo	PRF1, c.[50delT];c.[1442A > C] (p.L17fsX50);(p.Q481P)	0.0	28 855	FHL2; consanguinity; rapidly evolving; early onset; deceased
2	P59*	7 y	PRF1, c.[148G > A];c.[148G > A], p.V50M	9.2	69 543	FHL2; rapidly evolving; late onset
3	P35*	3 mo	PRF1, c.[50delT];c.[50delT] (p.L17fsX50)	0.0	43 042	FHL2; consanguinity; rapidly evolving; early onset; received HSCT
4	P1002†	9 y	NM	57.4	57 432	Unknown genetic cause; late onset; relapse
5	P101†	6 y	NM	15.3	23 563	Unknown genetic cause; consanguinity late onset; relapse
6	P66†	15 y	STXBP2, c.[511G > T];c[?], p.[168V > L]	0.1	19 743	Unknown genetic cause; late onset; relapse; received HSCT
7	P76†	5 y	NM	13.3	NA	Consanguinity; rapidly evolving form; late onset
8	P92†	1 mo	NM	1.0	21 030	Rapidly evolving form; early onset; received HSCT
9	P94†	1 mo	NM	0.0	16 203	Rapidly evolving form; early onset
10	P96†	5 y	NM	0.0	48 543	Rapidly evolving form; late onset; received HSCT
11	P98†	16 mo	NM	7.4	3904	Rapidly evolving form; early onset; received HSCT

NM indicates that no mutations in PRF1, UNC13D, STX11, STXBP2, or RAB27A were detected; NA, not available; and LU, lytic units.

From Molleran et al.¹⁹

From Sumegi et al.¹⁵