Table E1.

Clinical and laboratory findings at diagnosis of HLH

Family	1	2	3	4	5
Patient	P1	P2	P3	P4	P5
Ethnical origin	Lithuania	Sweden	Lithuania	Lithuania	Russia
Familial disease	Yes	Yes	No	No	No
Parental consanguinity	No	No	No	No	No
Sex	Female	Male	Male	Female	Male
RAB27A allele 1	Deletion, c.559C>T (p.Arg187Trp)	Dup-Inv	Dup-Inv	Dup-Inv	Dup-Inv
RAB27A allele 2	Dup-Inv	c.239G>C (p.Arg80Thr)	Dup-Inv	Dup-Inv	c.550C>T (p.Arg184*)
Age at diagnosis of HLH (y)	14	14.5	9	No HLH	No HLH
Fever	Yes	Yes	Yes	No	Yes (intermittent)
Splenomegaly	Yes	Yes	No	No	Yes, chronic (splenectomized)
Hepatomegaly	Yes	Yes	Yes	No	Transient, self-limiting
Hemoglobin (g/L)	83	87	90	Within normal	ND
Neutrophils (109/L)	0.45	0.80	0.14	Within normal	ND
Platelets (109/L)	35	54	194	Within normal	ND
Triglycerides (mmol/L)	2.49	5.8	2.71	Within normal	ND
Fibrinogen (g/L)	0.6	0.4	0.6	1.51	ND
Hemophagocytosis	No	No	Yes	ND	ND
Ferritin (μg/L)	2451	49000	12000	Within normal	ND
Soluble CD25 (pg/mL)	20512.4	ND	16437	1760	ND
NK-cell activity	ND	ND	Defective	Defective	Defective
NK-cell degranulation	Defective, 3.1% ΔCD107a	ND	Defective, 6% ΔCD107a	Defective, 3.3% ΔCD107a	Defective, 0.6% ΔCD107a
Neurological manifestations	Yes, before HLH onset	Yes	Yes, before HLH onset	Yes	No
Pathological CSF	Yes	ND	Yes	Yes	ND
Treatment active disease	HLH-2004	Cortico, CSA, ATG	HLH-2004	Cortico, MMF
Remission at 2 mo	No	No	Yes	NA
Age at HSCT	Not done		10	7
Outcome and follow-up	Deceased 48 d after HLH onset		Alive 19 mo after HSCT	Alive at 7 y	Alive at 16 y
Other manifestations	No	Skin granuloma, lung infiltrates	Skin granuloma, lung infiltrates	Skin granuloma, isolated CNS involvement	Hodgkin lymphoma at 13 y, recurrent fever episodes from 10 y

ATG, Antithymocyte globulin; Cortico, corticosteroids; CSA, cyclosporine A; CSF, cerebrospinal fluid; Dup-Inv, Duplication-Inversion; MMF, mycophenolate mofetil; NA, not applicable/available; ND, no data.