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 |
Items in bold are among the diagnostic criteria for HLH.
P: possible; URI: upper respiratory infection; NA: not applicable; ND: not determined; ↓: decreased.