Table 2

Presenting features and treatment outcome in 10 patients with HLH and PRF1 gene mutations

	Case 1	Case 2	Case 3	Case 4	Case 5	Case 6	Case 7	Case 8	Case 9	Case 10
No of sibs/affected	0/0	1/0	3/2	2/0	0/0	0/0	3/1	4/1	3/2	5/0
Ethnic origin	Ghana	Italy	Italy	Italy	Italy	Italy	Turkey	Turkey	Turkey	Turkey
Consanguinity	P	P	+	P	−	−	+	+	+	+
Sex	M	M	M	F	F	M	M	F	M	M
Age at diagnosis	2 mth	3 mth	1.5 mth	1.5 mth	6 mth	6 y	3 mth	2.5 mth	2 mth	2 mth
Fever	+	+	+	+	+	+	+	+	+	+
Hepatosplenomegaly	+	+	+	+	+	+	+	+	+	+
Skin rash	−	−	−	−	−	−	−	+	−	−
Lymphadenomegaly	+	−	−	−	−	+	−	−	−	−
CNS alterations	−	−	−	+	+	−	−	+	−	−
Oedema	−	−	−	+	+	−	+	+	−	ND
Jaundice	−	−	−	−	+	−	−	−	+	−
Associated infection	−	E coli, EBV	−	−	URI	EBV	CMV	URI	CMV	−
Haemoglobin (g/dl)	5.5	6.4	7.8	9.6	8.4	5.2	8.2	4.4	9.6	5.3
Platelets (×1000/mm³)	15	10	46	35	58	12	42	12	14	52
Neutropenia	+	+	−	+	+	+	+	+	ND	+
Hypertriglyceridaemia	+	+	+	+	+	+	+	+	+	+
Hypofibrinogenaemia	+	+	+	−	+	+	+	+	−	+
CSF pleiocytosis	+	+	ND	+	−	ND	+	+	ND	−
Absent NK activity	+	+	+	+	+	+	+	+	ND	↓
Response to therapy	+	+	+	−	+	−	+	+	−	+
Early reactivation	+	+	+	NA	+	NA	+	+	+	+
Present status	Asymptomatic 4+ mth after BMT	Asymptomatic 13+ mth after BMT	Asymptomatic 33+ mth after BMT	Dead of infection day +21	Dead of disease at 4 y	Dead of disease day +15	Asymptomatic 60 mth after BMT	Alive without disease but severe neurological impairment 56 mth after BMT	Dead of disease	Asymptomatic 96 mth after BMT

Items in bold are among the diagnostic criteria for HLH.
P: possible; URI: upper respiratory infection; NA: not applicable; ND: not determined; ↓: decreased.