Table 4. Parents and asymptomatic... | American Society of Hematology

Table 4.

Parents and asymptomatic siblings of patients with HLH

Family members of patients	NK LU	% NK	% perforin			Nucleotide change	Amino acid change
Family members of patients	NK LU	% NK	NK	CD8	CD56	Nucleotide change	Amino acid change
F9
Father	4.2	8	80↓	19	67	50delT^4-150	Leu17X
Mother	4.5	7	80↓	5↓	23↓	50delT^4-150	Leu17X
F11, mother	10.7	13	81↓	3↓	6↓	50delT^4-150	Leu17X
F10
Father	0.8↓	4	68↓	31	61	^4-150133G>A	Gly45RArg
Mother	6.5	14	95	6↓	11↓	^4-150160C>T	Arg54Ser
F1, mother	13.7	7	89	4↓	8↓	^4-150445G>A	Gly149Ser
F12
Father	1.9↓	10	85↓	2↓	7↓	^4-150449C>A	Ser150X
Mother	12.9	10	88	49↑	42	^4-150673C>T	Arg225Trp
F7
Father	ND	6	96	8	30	NA (no mutation in patient)
Mother	ND	4	92	19	54
F2
Father	12.4	8	93	8	43	NA (no mutation in patient)
Mother	12.4	9	91	9	31
F13
Father	(1.5)↓	7	96	7↓	37	No mutation
Mother	(1.4)↓	4	96	10	43
F14
Father	ND	7	90	12	35	No mutation
Mother	ND	8	93	29↑	73
F18, sibling^4-151	0.01↓	2	84↓	<1	26	No mutation
F19, sibling^‡	0.08↓	3	97	1	24	No mutation
F20, sibling^4-153	0.00↓	2	94	<1	9	No mutation
Normal values, 0 -1 y	>3.2	2-3	91-97	0-3	4-30
Normal values, adult	>3.2	7-31	86-98	8-28	30-77

Family members of patients	NK LU	% NK	% perforin			Nucleotide change	Amino acid change
Family members of patients	NK LU	% NK	NK	CD8	CD56	Nucleotide change	Amino acid change
F9
Father	4.2	8	80↓	19	67	50delT^4-150	Leu17X
Mother	4.5	7	80↓	5↓	23↓	50delT^4-150	Leu17X
F11, mother	10.7	13	81↓	3↓	6↓	50delT^4-150	Leu17X
F10
Father	0.8↓	4	68↓	31	61	^4-150133G>A	Gly45RArg
Mother	6.5	14	95	6↓	11↓	^4-150160C>T	Arg54Ser
F1, mother	13.7	7	89	4↓	8↓	^4-150445G>A	Gly149Ser
F12
Father	1.9↓	10	85↓	2↓	7↓	^4-150449C>A	Ser150X
Mother	12.9	10	88	49↑	42	^4-150673C>T	Arg225Trp
F7
Father	ND	6	96	8	30	NA (no mutation in patient)
Mother	ND	4	92	19	54
F2
Father	12.4	8	93	8	43	NA (no mutation in patient)
Mother	12.4	9	91	9	31
F13
Father	(1.5)↓	7	96	7↓	37	No mutation
Mother	(1.4)↓	4	96	10	43
F14
Father	ND	7	90	12	35	No mutation
Mother	ND	8	93	29↑	73
F18, sibling^4-151	0.01↓	2	84↓	<1	26	No mutation
F19, sibling^‡	0.08↓	3	97	1	24	No mutation
F20, sibling^4-153	0.00↓	2	94	<1	9	No mutation
Normal values, 0 -1 y	>3.2	2-3	91-97	0-3	4-30
Normal values, adult	>3.2	7-31	86-98	8-28	30-77

NK function of three asymptomatic siblings of patients with primary HLH (F18, 19, and 20) is extremely decreased. All three siblings had low perforin positivity but were proved to have no mutation in perforin genes. Of note, in infancy healthy controls also show low perforin positivity in CD8⁺ T cells. All the parents of patients with perforin deficiencies (parents F1, F9, F10, and F11) who are known to have a mutated allele showed a reduced proportion of perforin-expressing cells in certain cytotoxic cell types. All the mothers of these patients showed a normal or slightly decreased percentage of perforin-positive NK cells, and low perforin positivity in CD8⁺ T and CD56⁺ T cells. The father of patient P12, who has a known mutation of the perforin gene, showed a similar pattern. The fathers of patients P9 and P10 with a known mutation of the perforin gene showed reduced perforin positivity in NK cells. Parents without perforin mutations showed normal perforin positivity in all cell types.

NA indicates not applicable; ND, not done.

F4-150

Heterozygous mutation.

Male, 3 months.

Male, 4 months.

Female, 9 months.

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