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

Table 1

Characteristics and laboratory test of F-HLH type 5 patients with Munc18-2 R65 mutations

Patient	Age*	Mutation reported		NK function† (NR >3.1 LU)	% CD107a‡ (NR 11-35)	CD107a-MCF (NR 207-678)	HLH diagnosis§
Patient	Age*	Allele 1	Allele 2	NK function† (NR >3.1 LU)	% CD107a‡ (NR 11-35)	CD107a-MCF (NR 207-678)	HLH diagnosis§
P1
Proband	10 y	194G>A (R65Q)	WT	N/A	4.8	206	+
P2	6 y	194G>A (R65Q)	194G>A (R65Q)	0	N/A	N/A	+
P3
Proband	3 mo	194G>A (R65Q)	1621G>A (G541S)	0	N/A	N/A	+
Twin brother	3 mo	195G>A (R65Q)	WT	0	N/A	N/A	−
P4
Proband	2 y	193C>T (R65W)	WT	0	7	161	+
Mother	42 y	193C>T (R65W)	WT	2.2	14	446	−
Father	47 y	WT	WT	10.6	18	391	−
Brother	12 y	193C>T (R65W)	WT	2.7	16	217	−
Sister	5 y	193C>T (R65W)	WT	7.9	7	75	−

Patient	Age*	Mutation reported		NK function† (NR >3.1 LU)	% CD107a‡ (NR 11-35)	CD107a-MCF (NR 207-678)	HLH diagnosis§
Patient	Age*	Allele 1	Allele 2	NK function† (NR >3.1 LU)	% CD107a‡ (NR 11-35)	CD107a-MCF (NR 207-678)	HLH diagnosis§
P1
Proband	10 y	194G>A (R65Q)	WT	N/A	4.8	206	+
P2	6 y	194G>A (R65Q)	194G>A (R65Q)	0	N/A	N/A	+
P3
Proband	3 mo	194G>A (R65Q)	1621G>A (G541S)	0	N/A	N/A	+
Twin brother	3 mo	195G>A (R65Q)	WT	0	N/A	N/A	−
P4
Proband	2 y	193C>T (R65W)	WT	0	7	161	+
Mother	42 y	193C>T (R65W)	WT	2.2	14	446	−
Father	47 y	WT	WT	10.6	18	391	−
Brother	12 y	193C>T (R65W)	WT	2.7	16	217	−
Sister	5 y	193C>T (R65W)	WT	7.9	7	75	−

Values below the normal range are in bold type.

LU, lytic units; N/A, not available; NR, normal range at the Clinical Immunology Laboratory, Cincinnati Children’s Hospital Medical Center.

Age at diagnosis or test.

Cytolytic activity of NK cells.

Percentage of CD107a-expressing cells in degranulation assay.

Patient met (+) or did not meet (−) HLH-2004 diagnostic criteria.