Adult onset type 2 familial hemophagocytic lymphohistiocytosis with PRF1 c.65delC/c.163C>T compound heterozygous mutations: A case report

Table 1 Hemophagocytic lymphohistiocytosis-related genes list

HLH-related genes
AP3B1	BLOC1S6	CD27	IL2RG	ITK
LYST	MAGT1	PRF1	RAB27A	SH2D1A
STX11	STXBP2	TCN2	UNC13D	XIAP

HLH: Hemophagocytic lymphohistiocytosis.

Table 2 Genetic test result

Gene	Chromosome position	Transcript	Mutation position	Nucleotide change	Amino acid change	dbSNP	Homozygous/ Heterozygous	Disease/ Phenotype	Genetic mode	Source
PRF1	chr10:72360593	NM_001083116	Exon2	c.65delC	p.P22Rfs*29	-	Heterozygous	FHL2	AR	Father
PRF1	chr10:72360496	NM_001083116	Exon2	c.163C>T	p.R55C	rs201032696	Heterozygous	FHL2	AR	Mother

AR: Autosomal recessive inheritance; FHL2: Familial hemophagocytic lymphohistiocytosis; PRF1: Perforin.

Table 3 Expression of perforin and granzyme in the natural killer cells of our patient and his parents

	Patient	Father	Mother
Perforin positive rate of NK cells	80.44%	95.89%	94.61%
Granzyme positive rate of NK cells	90.49%	75.45%	84.07%

Biological reference range of perforin positive rate of natural killer (NK) cells: > 84%; Biological reference range of granzyme positive rate of NK cells: > 78%.