Table 1. Patients with a diagnosis of... | American Society of Hematology

Table 1.

Patients with a diagnosis of primary HLH

Patient	Age/sex	NK LU	%	% perforin			Nucleotide change	Amino acid change
Patient	Age/sex	NK LU	%	NK	CD8	CD56	Nucleotide change	Amino acid change
P9	3 mo/F	0.00↓	2↓	0↓	0	0↓	50delT^*	Leu17X
P11	8 mo/M	0.00↓	9	0↓	0	0↓	50delT^*	Leu17X
P10	3 y/F	0.12↓	6	61↓	0↓	0↓	133G>A^†	Gly45Arg
							160C>T^†	Arg54Ser
P1	10 y/F	0.01↓	18	1↓	0↓	0↓	116C>A^†	Pro39His
							445G>A^†	Gly149Ser
P6	2 mo/F	0.00↓	39	96	0	31	No mutation
P7	4 mo/F	0.00↓	1↓	83	1	4	No mutation
P2	7 mo/F	0.00↓	21	91	1	25	No mutation
Normal values	0-1 y		3 -17	91-97	0-3	4-30
		>3.2
	1-15 y		4-22	81-91	2-11	12-34

Patient	Age/sex	NK LU	%	% perforin			Nucleotide change	Amino acid change
Patient	Age/sex	NK LU	%	NK	CD8	CD56	Nucleotide change	Amino acid change
P9	3 mo/F	0.00↓	2↓	0↓	0	0↓	50delT^*	Leu17X
P11	8 mo/M	0.00↓	9	0↓	0	0↓	50delT^*	Leu17X
P10	3 y/F	0.12↓	6	61↓	0↓	0↓	133G>A^†	Gly45Arg
							160C>T^†	Arg54Ser
P1	10 y/F	0.01↓	18	1↓	0↓	0↓	116C>A^†	Pro39His
							445G>A^†	Gly149Ser
P6	2 mo/F	0.00↓	39	96	0	31	No mutation
P7	4 mo/F	0.00↓	1↓	83	1	4	No mutation
P2	7 mo/F	0.00↓	21	91	1	25	No mutation
Normal values	0-1 y		3 -17	91-97	0-3	4-30
		>3.2
	1-15 y		4-22	81-91	2-11	12-34

All patients demonstrated absent NK function. Patients P1, P9, and P11 showed lack of intracellular perforin in all cytotoxic cell types (complete deficiency). Patient P10 showed lack of intracellular perforin in CD8⁺ and CD56⁺ T cells and a very low positivity of perforin staining in the NK cells (partial deficiency). The other three patients with presumed primary HLH had normal percentages of perforin positive cytotoxic cells for age.

Homozygous mutation.

†

Heterozygous mutation.

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