Patient characteristics before transplantation
Patient no. . | Family history . | Other diseases . | Perforin or SAP defect . | Status at SCT . | Organ toxicity before SCT . |
|---|---|---|---|---|---|
| 1 | No | XLP | Absent SAP expression, no SAP or perforin mutation detected | CR | Hepatic HLH |
| 2 | No | Granulomatous disease | Absent perforin, perforin mutation (dupc.667-692/Y296H) | CR | Granulomatous skin disease, jaundice, cholangitis, multiple CNS lesions |
| 3 | No | Chediak-Higashi | – | CR | Pulmonary infiltrates requiring ventilation, probable HLH; multiple infections, renal HLH |
| 4 | No | None known | Perforin expressed, no perforin mutation, munc 13-14 expressed | CR | Hepatic HLH, recurrent chest infection, pulmonary infiltrates possible HLH |
| 5 | No | Down syndrome | Perforin expressed, munc 13-14 expressed | PR | Mild left ventricular hypertrophy, purpura fulminans, pulmonary infiltrates requiring ventilation, possible HLH |
| 6 | No | None known | SAP expressed, munc 13-14 expressed | CR | Microcephaly, intracranial hemorrhage, developmental delay, multiorgan failure requiring ventilation, CNS HLH |
| 7 | No | Phenylketonuria | Absent perforin expression, no mutation found | CR | None known |
| 8 | No | None known | No perforin mutation | PR | Developmental delay, pancreatic insufficiency, partial villous atrophy, previous SVC and IVC thrombosis |
| 9 | No | None known | Absent perforin, perforin mutation (L17X/C279G) | CR | None known |
| 10 | Yes | None known | – | PR | CNS HLH |
| 11 | Yes | None known | Absent perforin, perforin mutation (C393X/C393X) | PR | Hypertrophic cardiomyopathy |
| 12 | No | None known | Absent perforin, perforin mutation (L17X/L17X) | CR | Hepatic HLH, pleural effusions, impaired renal function |
Patient no. . | Family history . | Other diseases . | Perforin or SAP defect . | Status at SCT . | Organ toxicity before SCT . |
|---|---|---|---|---|---|
| 1 | No | XLP | Absent SAP expression, no SAP or perforin mutation detected | CR | Hepatic HLH |
| 2 | No | Granulomatous disease | Absent perforin, perforin mutation (dupc.667-692/Y296H) | CR | Granulomatous skin disease, jaundice, cholangitis, multiple CNS lesions |
| 3 | No | Chediak-Higashi | – | CR | Pulmonary infiltrates requiring ventilation, probable HLH; multiple infections, renal HLH |
| 4 | No | None known | Perforin expressed, no perforin mutation, munc 13-14 expressed | CR | Hepatic HLH, recurrent chest infection, pulmonary infiltrates possible HLH |
| 5 | No | Down syndrome | Perforin expressed, munc 13-14 expressed | PR | Mild left ventricular hypertrophy, purpura fulminans, pulmonary infiltrates requiring ventilation, possible HLH |
| 6 | No | None known | SAP expressed, munc 13-14 expressed | CR | Microcephaly, intracranial hemorrhage, developmental delay, multiorgan failure requiring ventilation, CNS HLH |
| 7 | No | Phenylketonuria | Absent perforin expression, no mutation found | CR | None known |
| 8 | No | None known | No perforin mutation | PR | Developmental delay, pancreatic insufficiency, partial villous atrophy, previous SVC and IVC thrombosis |
| 9 | No | None known | Absent perforin, perforin mutation (L17X/C279G) | CR | None known |
| 10 | Yes | None known | – | PR | CNS HLH |
| 11 | Yes | None known | Absent perforin, perforin mutation (C393X/C393X) | PR | Hypertrophic cardiomyopathy |
| 12 | No | None known | Absent perforin, perforin mutation (L17X/L17X) | CR | Hepatic HLH, pleural effusions, impaired renal function |
SVC indicates superior vena cava; IVC, inferior vena cava.