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/affected0/01/03/22/00/00/03/14/13/25/0
Ethnic originGhanaItalyItalyItalyItalyItalyTurkeyTurkeyTurkeyTurkey
Age at diagnosis2 mth3 mth1.5 mth1.5 mth6 mth6 y3 mth2.5 mth2 mth2 mth
Hepatosplenomegaly ++++++++++
Skin rash+
CNS alterations+++
Associated infection E coli, EBVURIEBVCMVURICMV
Haemoglobin (g/dl)
Platelets (×1000/mm3) 15104635581242121452
Neutropenia +++++++ND+
Hypertriglyceridaemia ++++++++++
Hypofibrinogenaemia ++++++++
CSF pleiocytosis++ND+ND++ND
Absent NK activity++++++++ND
Response to therapy+++++++
Early reactivation+++NA+NA++++
Present statusAsymptomatic 4+ mth after BMTAsymptomatic 13+ mth after BMTAsymptomatic 33+ mth after BMTDead of infection day +21Dead of disease at 4 yDead of disease day +15Asymptomatic 60 mth after BMTAlive without disease but severe neurological impairment 56 mth after BMTDead of diseaseAsymptomatic 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.