Table 1.

Genetic and clinical characteristics of the analyzed patients

PatientProtein deficitGeneticsAge at diagnosis (mo)TreatmentDisease status if AC at diagnosisOutcomeFollow-up from diagnosis (mo)
IC 1 MUNC18-2 Compound heterozygous 3 Antithymocyte globulin + cyclosporine + steroids + HSCT  Died TRM 5 
AC 1 MUNC18-2 Compound heterozygous 1 HLH04 + HSCT Activated during active follow-up Alive CR 22 
IC 2 MUNC18-2 474-483delinsGA 1001C>T 12 Steroids  Alive CR 48 
AC 2 MUNC18-2 474_483delinsGA 1001C>T 24 None Never activated Alive CR 72 
IC 3 MUNC18-2 1247G>C 18 HLH04 + rituximab + HSCT  Alive CR 108 
AC 3 MUNC18-2 1247G>C 60 None Never activated Alive CR 36 
IC 4 MUNC18-2 Unknown 16 HLH04 + HSCT  Died TRM 72 
AC 4 MUNC18-2 Unknown 9 HSCT Never activated Alive CR 60 
IC 5 MUNC18-2 Compound heterozygous NA HLH04 + HSCT  Alive CR 91 
AC 5 MUNC18-2 Compound heterozygous 6 HSCT Never activated Alive CR 75 
IC 6 MUNC18-2 1247G>C 138 Steroids + intravenous immunoglobulin  Alive CR 38 
AC 6 MUNC18-2 1247G>C 108 None Never activated Alive CR 42 
IC 7 LYST 2749-50delAG 24 HLH04 + HSCT  Died TRM after graft loss and second HSCT 26 
AC 7 LYST 2749-50delAG 102 None Never activated Alive CR 12 
IC 8 PRF1 50delT 853-855delAAG 5 Unspecified chemotherapy  Died HLH progression 1 
AC 8 PRF1 50delT 853-855delAAG 5 HLH04 + HSCT Never activated; received prophylactic treatment pre-SCT Alive CR 32 
IC 9 PRF1 445G>A 886T>C 60 Steroids  Died as a result of infection 72 
AC 9 PRF1 445G>A 886T>C 1 HSCT Never activated Alive CR 24 
IC 10 PRF1 Not available 18 Steroids + cyclosporine + alemtuzumab + HSCT  Alive CR 12 
AC 10 PRF1 Not available 100 Steroids + cyclosporine + alemtuzumab + HSCT Activated while waiting for SCT Alive CR 12 
IC 11 PRF1 254G>T;473C>T; 390C>T 48 HLH94 + HSCT  Alive CR 36 
AC 11 PRF1 254G>T;473C>T; 390C>T 9 HSCT Never activated Alive CR 38 
IC 12 PRF1 1122G>A 2 HLH04  Died HLH progression 2 
AC 12 PRF1 1122G>A Birth HLH04 Activated during prophylactic treatment while waiting for SCT Lost to follow-up  
IC 13 PRF1 Not available 4 Etoposide + steroids + cyclosporine + intrathecal methotrexate + antithymocyte globulin + HSCT  Died HLH progression 8 
AC 13 PRF1 Not available Prenatal Steroids + cyclosporine + antithymocyte globulin + alemtuzumab + HSCT Activated during prophylactic treatment while waiting for SCT Died HLH progression 15 
IC 14 PRF1 Not available 54 Steroids + cyclosporine + alemtuzumab + HSCT  Alive CR 18 
AC 14 PRF1 Not available 75 Steroids + cyclosporine + rituximab + HSCT Activated during prophylactic treatment while waiting for SCT Alive CR 48 
IC 15 PRF1 1376C>T 36 HLH04 + HSCT  Alive CR 36 
AC 15a PRF1 1376C>T 5 HLH04 + HSCT Activated while waiting for HSCT Died TRM 16 
AC 15b PRF1 1376C>T Prenatal HSCT Never activated Alive CR 17 
IC 16 PRF1 50delT; 1034C 8 HLH94 + HSCT  Alive CR 144 
AC 16 PRF1 50delT; 1034C Birth HLH94 + HSCT Activated during active follow-up Alive CR 48 
IC 17 PRF1 50delT; 1130G>A 1 Undefined induction + HSCT  Alive CR 12 
AC 17 PRF1 50delT;1130G>A Birth HLH04 + HSCT Activated during active follow-up Alive CR 62 
IC 18 PRF1 1081A>T; 1081A>T 60 HLH04 + HSCT  Died TRM 3 
AC 18 PRF1 1081A>T; 1081A>T 30 HSCT Never activated Alive CR 21 
IC 19 PRF1 Not available 72 HLH04 + HSCT  Alive CR 60 
AC 19 PRF1 Not available 3 HLH04 + HSCT Activated while waiting for HSCT Alive CR 72 
IC 20 PRF1 G5759C>T G5897A>C 8 HLH04 + HSCT  Alive CR 36 
AC 20 PRF1 G5759C>T G5897A>C Prenatal HSCT Never activated Alive CR 18 
IC 21 MUNC13-4 1389G>A; 1620-1621delCA 1 HLH04 + HSCT  Alive CR 36 
AC 21 MUNC13-4 1389G>A; 1620-1621delCA Prenatal HSCT Never activated Alive CR 60 
IC 22 MUNC13-4 118-308C>T 16 Cyclosporine + etoposide (withdrew)  Died HLH progression 2 
AC 22 MUNC13-4 118-308C>T 13 HSCT, lost graft, HLH04 + second HSCT Never activated Alive CR 89 
IC 23 MUNC13-4 Not available 2 HLH94 + antithymocyte globulin + HSCT  Alive CR 144 
AC 23 MUNC13-4 Not available 1 None  Alive CR 144 
IC 24/a MUNC13-4 118-308C>T; 1596+1G>C 1 HLH04 + HSCT  Alive CR 45 
IC 24/b MUNC13-4 118-308C>T; 1596+1G>C 1 HLH04 + HSCT  Died TRM 13 
AC 24 MUNC13-4 118-308C>T; 1596+1G>C Birth HSCT Never activated Alive CR 26 
IC 25 STX11 37+16>A Birth HLH04  Died HLH progression 1 
AC 25 STX11 37+16>A Prenatal Cyclosporine + steroids + HSCT Never activated; receiving prophylactic treatment Died; sudden death in CR 17 
IC 26 STX11 Not available 36 HLH04 + HSCT  Alive CR 120 
AC 26 STX11 Not available 72 HLH94 + HSCT Activated during active follow up Died TRM 76 
IC 27 RAB27A 281G>A 18 HLH04 + HSCT  Alive CR 25 
AC 27 RAB27A 281G> 144 None Never activated Alive CR 2 
IC 28 RAB27A 467+1G>A 12 HLH94  Lost to follow-up NA 
AC 28 RAB27A 467+1G>A Birth Cyclosporine + HSCT Never activated; receiving prophylactic treatment Alive CR 12 
IC 29 RAB27A 220G>C;335delA 9 Dexamethasone + etoposide  Died HLH progression 36 
AC 29 RAB27A 220G>C;335delA 1 HSCT Never activated Alive CR 91 
IC 30 RAB27A Not available 9 Corticosteroids, cyclosporine, intrathecal methotrexate, HSCT × 3  Alive CR 84 
AC 30 RAB27A Not available Prenatal Corticosteroids, cyclosporine, HSCT Activated while waiting for HSCT Died HLH progression 18 
IC 31 RAB27A Not available 126 Alemtuzumab, corticosteroids, cyclosporine, intrathecal methotrexate, natalizumab, HSCT  Died TRM 30 
AC 31 RAB27A Not available 180 HSCT Never activated; receiving prophylactic treatment while waiting for HSCT Alive in CR 36 
IC 32 RAB27A Not available 84 Cyclosporine + alemtuzumab + steroids  Died HLH progression 12 
AC 32 RAB27A RAB27A Not available 84 Cyclosporine + HSCT Never activated; receiving prophylactic treatment while waiting for HSCT Alive in CR 26 
PatientProtein deficitGeneticsAge at diagnosis (mo)TreatmentDisease status if AC at diagnosisOutcomeFollow-up from diagnosis (mo)
IC 1 MUNC18-2 Compound heterozygous 3 Antithymocyte globulin + cyclosporine + steroids + HSCT  Died TRM 5 
AC 1 MUNC18-2 Compound heterozygous 1 HLH04 + HSCT Activated during active follow-up Alive CR 22 
IC 2 MUNC18-2 474-483delinsGA 1001C>T 12 Steroids  Alive CR 48 
AC 2 MUNC18-2 474_483delinsGA 1001C>T 24 None Never activated Alive CR 72 
IC 3 MUNC18-2 1247G>C 18 HLH04 + rituximab + HSCT  Alive CR 108 
AC 3 MUNC18-2 1247G>C 60 None Never activated Alive CR 36 
IC 4 MUNC18-2 Unknown 16 HLH04 + HSCT  Died TRM 72 
AC 4 MUNC18-2 Unknown 9 HSCT Never activated Alive CR 60 
IC 5 MUNC18-2 Compound heterozygous NA HLH04 + HSCT  Alive CR 91 
AC 5 MUNC18-2 Compound heterozygous 6 HSCT Never activated Alive CR 75 
IC 6 MUNC18-2 1247G>C 138 Steroids + intravenous immunoglobulin  Alive CR 38 
AC 6 MUNC18-2 1247G>C 108 None Never activated Alive CR 42 
IC 7 LYST 2749-50delAG 24 HLH04 + HSCT  Died TRM after graft loss and second HSCT 26 
AC 7 LYST 2749-50delAG 102 None Never activated Alive CR 12 
IC 8 PRF1 50delT 853-855delAAG 5 Unspecified chemotherapy  Died HLH progression 1 
AC 8 PRF1 50delT 853-855delAAG 5 HLH04 + HSCT Never activated; received prophylactic treatment pre-SCT Alive CR 32 
IC 9 PRF1 445G>A 886T>C 60 Steroids  Died as a result of infection 72 
AC 9 PRF1 445G>A 886T>C 1 HSCT Never activated Alive CR 24 
IC 10 PRF1 Not available 18 Steroids + cyclosporine + alemtuzumab + HSCT  Alive CR 12 
AC 10 PRF1 Not available 100 Steroids + cyclosporine + alemtuzumab + HSCT Activated while waiting for SCT Alive CR 12 
IC 11 PRF1 254G>T;473C>T; 390C>T 48 HLH94 + HSCT  Alive CR 36 
AC 11 PRF1 254G>T;473C>T; 390C>T 9 HSCT Never activated Alive CR 38 
IC 12 PRF1 1122G>A 2 HLH04  Died HLH progression 2 
AC 12 PRF1 1122G>A Birth HLH04 Activated during prophylactic treatment while waiting for SCT Lost to follow-up  
IC 13 PRF1 Not available 4 Etoposide + steroids + cyclosporine + intrathecal methotrexate + antithymocyte globulin + HSCT  Died HLH progression 8 
AC 13 PRF1 Not available Prenatal Steroids + cyclosporine + antithymocyte globulin + alemtuzumab + HSCT Activated during prophylactic treatment while waiting for SCT Died HLH progression 15 
IC 14 PRF1 Not available 54 Steroids + cyclosporine + alemtuzumab + HSCT  Alive CR 18 
AC 14 PRF1 Not available 75 Steroids + cyclosporine + rituximab + HSCT Activated during prophylactic treatment while waiting for SCT Alive CR 48 
IC 15 PRF1 1376C>T 36 HLH04 + HSCT  Alive CR 36 
AC 15a PRF1 1376C>T 5 HLH04 + HSCT Activated while waiting for HSCT Died TRM 16 
AC 15b PRF1 1376C>T Prenatal HSCT Never activated Alive CR 17 
IC 16 PRF1 50delT; 1034C 8 HLH94 + HSCT  Alive CR 144 
AC 16 PRF1 50delT; 1034C Birth HLH94 + HSCT Activated during active follow-up Alive CR 48 
IC 17 PRF1 50delT; 1130G>A 1 Undefined induction + HSCT  Alive CR 12 
AC 17 PRF1 50delT;1130G>A Birth HLH04 + HSCT Activated during active follow-up Alive CR 62 
IC 18 PRF1 1081A>T; 1081A>T 60 HLH04 + HSCT  Died TRM 3 
AC 18 PRF1 1081A>T; 1081A>T 30 HSCT Never activated Alive CR 21 
IC 19 PRF1 Not available 72 HLH04 + HSCT  Alive CR 60 
AC 19 PRF1 Not available 3 HLH04 + HSCT Activated while waiting for HSCT Alive CR 72 
IC 20 PRF1 G5759C>T G5897A>C 8 HLH04 + HSCT  Alive CR 36 
AC 20 PRF1 G5759C>T G5897A>C Prenatal HSCT Never activated Alive CR 18 
IC 21 MUNC13-4 1389G>A; 1620-1621delCA 1 HLH04 + HSCT  Alive CR 36 
AC 21 MUNC13-4 1389G>A; 1620-1621delCA Prenatal HSCT Never activated Alive CR 60 
IC 22 MUNC13-4 118-308C>T 16 Cyclosporine + etoposide (withdrew)  Died HLH progression 2 
AC 22 MUNC13-4 118-308C>T 13 HSCT, lost graft, HLH04 + second HSCT Never activated Alive CR 89 
IC 23 MUNC13-4 Not available 2 HLH94 + antithymocyte globulin + HSCT  Alive CR 144 
AC 23 MUNC13-4 Not available 1 None  Alive CR 144 
IC 24/a MUNC13-4 118-308C>T; 1596+1G>C 1 HLH04 + HSCT  Alive CR 45 
IC 24/b MUNC13-4 118-308C>T; 1596+1G>C 1 HLH04 + HSCT  Died TRM 13 
AC 24 MUNC13-4 118-308C>T; 1596+1G>C Birth HSCT Never activated Alive CR 26 
IC 25 STX11 37+16>A Birth HLH04  Died HLH progression 1 
AC 25 STX11 37+16>A Prenatal Cyclosporine + steroids + HSCT Never activated; receiving prophylactic treatment Died; sudden death in CR 17 
IC 26 STX11 Not available 36 HLH04 + HSCT  Alive CR 120 
AC 26 STX11 Not available 72 HLH94 + HSCT Activated during active follow up Died TRM 76 
IC 27 RAB27A 281G>A 18 HLH04 + HSCT  Alive CR 25 
AC 27 RAB27A 281G> 144 None Never activated Alive CR 2 
IC 28 RAB27A 467+1G>A 12 HLH94  Lost to follow-up NA 
AC 28 RAB27A 467+1G>A Birth Cyclosporine + HSCT Never activated; receiving prophylactic treatment Alive CR 12 
IC 29 RAB27A 220G>C;335delA 9 Dexamethasone + etoposide  Died HLH progression 36 
AC 29 RAB27A 220G>C;335delA 1 HSCT Never activated Alive CR 91 
IC 30 RAB27A Not available 9 Corticosteroids, cyclosporine, intrathecal methotrexate, HSCT × 3  Alive CR 84 
AC 30 RAB27A Not available Prenatal Corticosteroids, cyclosporine, HSCT Activated while waiting for HSCT Died HLH progression 18 
IC 31 RAB27A Not available 126 Alemtuzumab, corticosteroids, cyclosporine, intrathecal methotrexate, natalizumab, HSCT  Died TRM 30 
AC 31 RAB27A Not available 180 HSCT Never activated; receiving prophylactic treatment while waiting for HSCT Alive in CR 36 
IC 32 RAB27A Not available 84 Cyclosporine + alemtuzumab + steroids  Died HLH progression 12 
AC 32 RAB27A RAB27A Not available 84 Cyclosporine + HSCT Never activated; receiving prophylactic treatment while waiting for HSCT Alive in CR 26 

HLH04, treatment according to the HLH04 protocol from the International Histiocyte Society; SCT, stem cell transplantation.

View Large
Close Modal
This Feature Is Available To Subscribers Only

or Create an Account

Close Modal
Close Modal