Table 1 Clinical findings at diagnosis... | American Society of Hematology

Table 1

Clinical findings at diagnosis and mutational analysis of the FHL patients

Characteristics	Patient no.
Characteristics	1	2	3	4	5
Ethnic origin	Netherlands	Sweden	Pakistan	Lebanon	Turkey
Consanguinity	No	No	Yes	Yes	Yes
Sex	Female	Male	Male	Male	Male
Affected gene	PRF1	PRF1	UNC13D	STX11	STX11
Mutation*	H222Q	E317R + D430Y	W382X	T37FsX62	Q268X
Age at diagnosis, mo	2	0	2	7	72
Fever higher than 38°C	+	+	+	+	+
Splenomegaly	+	+	+	+	+
Pancytopenia	+	+	+	+	+
Hypertriglyceridemia	−	+	+	+	+
Hypofibrinogenemia	+	+	+	+	+
Ferritin, μg/L	22000	16000	20000	5000	1000
NK cell activity	Absent	Partial restoration by IL-2	Partial restoration by IL-2	Partial restoration by IL-2	Partial restoration by IL-2
Hemophagocytosis	+	−	+	+	+
Outcome	Alive and well after SCT	Dead before SCT	Alive and well, SCT planned	Alive and well after SCT	Alive and well after SCT

Characteristics	Patient no.
Characteristics	1	2	3	4	5
Ethnic origin	Netherlands	Sweden	Pakistan	Lebanon	Turkey
Consanguinity	No	No	Yes	Yes	Yes
Sex	Female	Male	Male	Male	Male
Affected gene	PRF1	PRF1	UNC13D	STX11	STX11
Mutation*	H222Q	E317R + D430Y	W382X	T37FsX62	Q268X
Age at diagnosis, mo	2	0	2	7	72
Fever higher than 38°C	+	+	+	+	+
Splenomegaly	+	+	+	+	+
Pancytopenia	+	+	+	+	+
Hypertriglyceridemia	−	+	+	+	+
Hypofibrinogenemia	+	+	+	+	+
Ferritin, μg/L	22000	16000	20000	5000	1000
NK cell activity	Absent	Partial restoration by IL-2	Partial restoration by IL-2	Partial restoration by IL-2	Partial restoration by IL-2
Hemophagocytosis	+	−	+	+	+
Outcome	Alive and well after SCT	Dead before SCT	Alive and well, SCT planned	Alive and well after SCT	Alive and well after SCT

+ indicates presence; −, absence; SCT, stem cell transplantation.

Patient no. 1: H222Q = c.(666C>A) + c.(666C>A) p.H222Q; no. 2: E317R + D430Y = c.(949G>A) + c.(1288G>T) p.E317R + D430Y; no. 3: W382X = c.(1145G>A) + c.(1145G>A) p.W382X; no. 4: T37FsX62 = c.(110delC) + c.(110delC) p.T37FsX62; and no. 5: Q268X = c.(802C>T) + c.(802C>T) p.Q268X.

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