Table 3.

Clinical Findings and Mutation Designation in Families with FHL and Perforin Mutations^[Note]

Family andMutation	Countryof Originof Parents	Consanguinity/Family Historya	Age atDiagnosis(Mo)/Sexb	Fever	Splenomegaly	Cytopeniac	H/Hd	Hemophagocytosise	Treatmentbefore BMT(VP/Cs/CsA/HLH-94)f	BMT Status/Outcome
Trp374stop:
1	Turkey	+/+	2/M	+	+	+	+	+	VP/Cs/CsA	No BMT, dead
7	Turkey	−/+	1/F	+	+	+	NDg	+	VP/Cs	No BMT, dead
11	Turkey	+/+	39/M	+	+	+	+	+	HLH-94	BMT, alive and well
17	Turkey	+/+	10/F	+	+	+	+	+	No treatment	No BMT, dead
Ile224asp:
3	Sweden	+/−	58/F	+	+	+	+	+	VP/Cs/CsA	BMT, alive, mild retardation
Tyr219stop/Val50met:
9	Turkey	−/−	4/M	+	+	+	+	+	HLH-94	No BMT, dead
K285:
33	Turkey	−/−	3/F	+	+	+	+	+	No treatment	No BMT, dead

Note.— + = finding is present; − = finding is not present.

^aFamily history = at least two affected children in the family.

^bM = male; F = female.

^cAffecting ⩾2 of 3 lineages in peripheral blood (hemoglobin <90 g/L; platelets <100 × 10⁹/L; neutrophils <1.0 × 10⁹/L).

^dH/H = hypertriglyceridemia and/or hypofibrinogenemia (fasting triglycerides ⩾2.0 mmol/L or ⩾3 SD of the normal value for age, fibrinogen ⩽1.5 g/L or ⩽3 SD).

^eHemophagocytosis of bone marrow, spleen, or lymph nodes, with no evidence of malignancy.

^fVP = etoposide (VP-16); Cs = Corticosteroids; CsA = Cyclosporin A; HLH-94 = the treatment protocol HLH-94 of the Histiocyte Society (Henter et al. 1997).

^gND = no data available.