Table 2
Presenting features and treatment outcome in 10 patients with HLH and PRF1 gene mutations
| Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Case 6 | Case 7 | Case 8 | Case 9 | Case 10 | |
| No of sibs/affected | 0/0 | 1/0 | 3/2 | 2/0 | 0/0 | 0/0 | 3/1 | 4/1 | 3/2 | 5/0 |
| Ethnic origin | Ghana | Italy | Italy | Italy | Italy | Italy | Turkey | Turkey | Turkey | Turkey |
| Consanguinity | P | P | + | P | − | − | + | + | + | + |
| Sex | M | M | M | F | F | M | M | F | M | M |
| Age at diagnosis | 2 mth | 3 mth | 1.5 mth | 1.5 mth | 6 mth | 6 y | 3 mth | 2.5 mth | 2 mth | 2 mth |
| Fever | + | + | + | + | + | + | + | + | + | + |
| Hepatosplenomegaly | + | + | + | + | + | + | + | + | + | + |
| Skin rash | − | − | − | − | − | − | − | + | − | − |
| Lymphadenomegaly | + | − | − | − | − | + | − | − | − | − |
| CNS alterations | − | − | − | + | + | − | − | + | − | − |
| Oedema | − | − | − | + | + | − | + | + | − | ND |
| Jaundice | − | − | − | − | + | − | − | − | + | − |
| Associated infection | − | E coli, EBV | − | − | URI | EBV | CMV | URI | CMV | − |
| Haemoglobin (g/dl) | 5.5 | 6.4 | 7.8 | 9.6 | 8.4 | 5.2 | 8.2 | 4.4 | 9.6 | 5.3 |
| Platelets (×1000/mm3) | 15 | 10 | 46 | 35 | 58 | 12 | 42 | 12 | 14 | 52 |
| Neutropenia | + | + | − | + | + | + | + | + | ND | + |
| Hypertriglyceridaemia | + | + | + | + | + | + | + | + | + | + |
| Hypofibrinogenaemia | + | + | + | − | + | + | + | + | − | + |
| CSF pleiocytosis | + | + | ND | + | − | ND | + | + | ND | − |
| Absent NK activity | + | + | + | + | + | + | + | + | ND | ↓ |
| Response to therapy | + | + | + | − | + | − | + | + | − | + |
| Early reactivation | + | + | + | NA | + | NA | + | + | + | + |
| Present status | Asymptomatic 4+ mth after BMT | Asymptomatic 13+ mth after BMT | Asymptomatic 33+ mth after BMT | Dead of infection day +21 | Dead of disease at 4 y | Dead of disease day +15 | Asymptomatic 60 mth after BMT | Alive without disease but severe neurological impairment 56 mth after BMT | Dead of disease | Asymptomatic 96 mth after BMT |
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Items in bold are among the diagnostic criteria for HLH.
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P: possible; URI: upper respiratory infection; NA: not applicable; ND: not determined; ↓: decreased.
