Table 1 Familial data, mutation data,... | American Society of Hematology

Table 1

Familial data, mutation data, and clinical findings in patients with biallelic RAB27A and UNC13D mutations

	RAB27A (GS2)			UNC13D (FHL3)
	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6	Patient 7
Origin	Sweden	Sweden	Pakistan	Pakistan	The Netherlands	Denmark	Poland
Consanguinity	No	No	Yes	Yes	No	No	No
Sex	Female	Female	Female	Male	Female	Female	Female
Mutation	c.239G→C c.550C→T	c.239G→C c.550C→T	c.240-2A→C (homozygous)	c.1145G→A (homozygous)	c.247C→T c.754-2A→G	c.1389+1G→A c.2477_2480delTCAC	c.753+1G→T (homozygous)
Protein alteration	Splice error R184X	Splice error R184X	Splice error	W382X	R83X splice error	Splice error L826QfsX20	Splice error
Age at HLH diagnosis	2 mo	2 mo	13 y	2 mo	1 mo	2 mo	7 mo
Fever (> 38°C)	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Splenomegaly	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Hepatomegaly	Yes	Yes	No	Yes	Yes	Yes	Yes
Hemoglobin, g/L	46	62	81	52	79	—	82
Neutrophils, 10⁹/L	0.7	0.3	2.0	0.2	0.7	—	0.3
Platelets, 10⁹/L	10	85	53	5	9	—	2
Triglycerides, mmol/L	3.6	3.3	ND	3.3	4.2	—	3.7
Fibrinogen, g/L	ND	ND	1.9	0.6	ND	ND	0.6
Ferritin, μg/L	2293	1596	940	19 914	12 160	—	594
Hemophagocytosis	ND	ND	No	Yes (spleen)	No	Yes (BM)	Yes (BM)
sCD25, U/mL	ND	ND	ND	ND	8350	ND	ND
Decreased NK-cell activity	Borderline*	Yes	Borderline†	Yes	Yes	Yes	Yes
Neurologic disease‡	Yes	No	Yes	Yes	Yes	Yes	Yes
Treatment protocol	HLH-2004	HLH-2004	HLH-2004	HLH-2004	HLH-2004	HLH 2004	HLH-2004
Remission at 2 mo	No	No	No	ND	No	Yes	Yes
HSCT	Yes	Yes	Yes	Yes	Yes	Yes	No
Outcome	Alive	Alive	Alive	Dead	Alive	Dead	Dead

	RAB27A (GS2)			UNC13D (FHL3)
	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6	Patient 7
Origin	Sweden	Sweden	Pakistan	Pakistan	The Netherlands	Denmark	Poland
Consanguinity	No	No	Yes	Yes	No	No	No
Sex	Female	Female	Female	Male	Female	Female	Female
Mutation	c.239G→C c.550C→T	c.239G→C c.550C→T	c.240-2A→C (homozygous)	c.1145G→A (homozygous)	c.247C→T c.754-2A→G	c.1389+1G→A c.2477_2480delTCAC	c.753+1G→T (homozygous)
Protein alteration	Splice error R184X	Splice error R184X	Splice error	W382X	R83X splice error	Splice error L826QfsX20	Splice error
Age at HLH diagnosis	2 mo	2 mo	13 y	2 mo	1 mo	2 mo	7 mo
Fever (> 38°C)	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Splenomegaly	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Hepatomegaly	Yes	Yes	No	Yes	Yes	Yes	Yes
Hemoglobin, g/L	46	62	81	52	79	—	82
Neutrophils, 10⁹/L	0.7	0.3	2.0	0.2	0.7	—	0.3
Platelets, 10⁹/L	10	85	53	5	9	—	2
Triglycerides, mmol/L	3.6	3.3	ND	3.3	4.2	—	3.7
Fibrinogen, g/L	ND	ND	1.9	0.6	ND	ND	0.6
Ferritin, μg/L	2293	1596	940	19 914	12 160	—	594
Hemophagocytosis	ND	ND	No	Yes (spleen)	No	Yes (BM)	Yes (BM)
sCD25, U/mL	ND	ND	ND	ND	8350	ND	ND
Decreased NK-cell activity	Borderline*	Yes	Borderline†	Yes	Yes	Yes	Yes
Neurologic disease‡	Yes	No	Yes	Yes	Yes	Yes	Yes
Treatment protocol	HLH-2004	HLH-2004	HLH-2004	HLH-2004	HLH-2004	HLH 2004	HLH-2004
Remission at 2 mo	No	No	No	ND	No	Yes	Yes
HSCT	Yes	Yes	Yes	Yes	Yes	Yes	No
Outcome	Alive	Alive	Alive	Dead	Alive	Dead	Dead

— indicates not applicable; ND, no data available; and BM, bone marrow.

A total of 22 lytic units (reference value > 10 lytic units).

A total of 11 lytic units (reference value > 10 lytic units).

Neurologic disease relates to the entire course of the disease.