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

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.