1 | M | 2 m | Meningitis, pyrexia, URTI, anaemia (Hb 8.8 g/dl) | ND | – | N | N | *04/*14 |
2 | M | 2 m | Encephalitis, conjunctivitis, URTI | Normal | MR, normal | N | N | *13/*15 |
3 | M | 6 m | Meningitis, pyrexia, hepatosplenomegaly, cervical lymphadenopathy, pancytopenia, anaemia (Hb 8.5 g/dl), prolonged clotting time, hepatitis, HLH | ND | – | Y | – | – |
4 | M | 2 y, 1 m | Encephalitis, pyrexia, cALL | Encephalopathic | MR, abnormal | N | Y | *04 |
5 | F | 2 y, 3 m | Encephalitis, ataxia, anaemia (Hb 10.9 g/dl), hepatitis | Encephalopathic | CT, normal | N | N | *04/*07 |
6 | F | 6 y, 4 m | Encephalitis, thrombocytopenia, hepatitis, DIC, acute renal failure, multiple organ failure, Cockayne syndrome | Silence | – | Y | – | – |
7 | M | 9 y | Encephalitis, thrombocytopenia, anaemia (Hb 10.7 g/dl), cervical lymphadenopathy | Encephalopathic | MR, abnormal | N | Y | – |
8 | F | 13 y | Encephalitis, liver failure, Crigler-Najjar syndrome | ND | – | ND | ND | – |
9 | M | 13 y | Encephalitis, hemiparesis, ataxia | Post-ictal EEG: slow on left | MR+CT, normal | N | N | – |
10 | F | 15 y | Encephalitis | Encephalopathic | CT, abnormal | N | Y | *03/*04 |
11 | F | 1 d (23 wk) | Encephalitis, NEC, PDA, hepatitis, surfactant deficiency, osteopenia of immaturity, valgus leg deformity at age 1 y | ND | – | N | Y | – |
12 | F | 1 d (36 wk) | Encephalitis, VSD, ASD, PDA, poor respiratory drive, obstructive jaundice, persistent anaemia, 47XXX | ND | [USS, cysts on choroid plexus] | Y | – | – |