Table 1. Presenting features and current status in four patients with haemophagocytic lymphohistiocytosis (HLH) and biallelic STXBP2 gene mutations.

UPN	113	388	392	408
Consanguinity	+	+	+	Not known
Ethnic origin	Caucasian, Italy	Pakistani	Kuwaiti	Caucasian, UK
Mutation	p.Glu132Ala c.395A>C	p.Arg405Gln c.1214G>A	p.Pro477Leu c.1430C>T	p.Gly541Ser c.1621G>A
Sex	M	F	F	F
Age at diagnosis	4 years	4.5 months	7 months	7 months
Fever	+	+	+	+
Splenomegaly	+	+	+	+
Haemoglobin (<9 g/dl)	8.0	5.7	9.1	6.2
Platelets(<100000/mm3)	23	38	60	11
Neutrophils (<1000/mm3)	Normal	2.05	0.84	0.4
Triglycerides (>265 mg/dl)	Normal	823	495	600
Fibrinogen (<150 mg/dl)	75	90	Normal	110
Haemophagocytosis	+	+	+	+
CNS symptoms	+	no	no	no
CSF pleocytosis(<5/mm3)	22	no	no	ND
Degranulation assay	ND	ND	ND	Abnormal*
BMT, donor	NP	MUD	MSD	MUD
Present status	Deceased of disease at 4.7 years	Deceased 2 years, 8 months, enteropathy post HSCT	Alive 3 years 6 months	Alive 2 years, 8 months

ND, Not determined; NP, Not performed.

CNS, central nervous system; CSF, cerebrospinal fluid; HSCT, haematopoietic stem cell transplantation; MSD: matched sibling donor; MUD, matched unrelated donor.

Items in bold are comprised among diagnostic criteria for HLH.¹²

^*See text for details.