Patient characteristics
| Patient no . | Age at initial presentation . | EBV HLH before HCT . | Non-EBV HLH before HCT . | HLH not in full remission before HCT . | Colitis before HCT . | Other . | XIAP mutation . | Protein expression . |
|---|---|---|---|---|---|---|---|---|
| 1 | 3 mo | − | + | − | − | 1443_1449 delins 24 (P482fsX508) | NE* | |
| 2 | 2 mo | − | + | + | − | 1443_1449 delins 24 (P482fsX508) | NE | |
| 3 | 2 mo | − | + | − | − | 563 G → A (G188E) | Reduced | |
| 4 | Asymptomatic (symptomatic brother) | − | − | − | − | 563 G → A (G188E) | Reduced | |
| 5 | 15 mo | − | − | − | + | Recurrent enterocutaneous fistulas; multiple episodes of polymicrobial sepsis | 608G → A (C203Y) | Reduced |
| 6 | 9 mo | − | + | − | − | E99KfsX129 | Absent | |
| 7 | 9 y | + | − | − | − | 497G → T, R166I | NE | |
| 8 | 7 mo | − | + | + | − | 1141C → T (R381X) | Reduced | |
| 9 | Infancy | − | + | − | − | 1481 T → A (I494N) | NE | |
| 10 | 4 mo | − | + | + | − | 1445 C → G (P482R) | Reduced | |
| 11 | 1 y | + | − | + | − | Repeated infections: pneumonia, otitis media, history of paracentesis, mastoidectomy | 1189 delA (I397fsX414) | Absent |
| 12 | 1 y | + | − | + | − | 387_390del (D130fsX140) | Not reported | |
| 13 | 3 mo | − | + | − | − | Gross Deletion Exons 1-5 | Absent | |
| 14 | 1 y | − | − | − | + | Recurrent fevers; pneumococcal sepsis. | 758 C → G (S253X) | Absent |
| 15 | 3 y | − | + | − | − | Ventricular septal defect | 356_359del (N119fs384) | NE |
| 16 | 7 y | + | + | − | − | 1141C → T (R381X) | Reduced | |
| 17 | 8 y | + | − | + | − | 310 C → T (Q104X) | Absent | |
| 18 | Infancy | − | + | − | − | Liver failure in infancy required liver transplantation; nodular lung disease; positive CMV and fungal elements | Gross deletion exon 6 | Truncated (robust detection of a smaller molecular weight protein by Western blot) |
| 19 | 17 y | + | − | − | − | 894_898 del 5 (K299fsX307) | Absent |
| Patient no . | Age at initial presentation . | EBV HLH before HCT . | Non-EBV HLH before HCT . | HLH not in full remission before HCT . | Colitis before HCT . | Other . | XIAP mutation . | Protein expression . |
|---|---|---|---|---|---|---|---|---|
| 1 | 3 mo | − | + | − | − | 1443_1449 delins 24 (P482fsX508) | NE* | |
| 2 | 2 mo | − | + | + | − | 1443_1449 delins 24 (P482fsX508) | NE | |
| 3 | 2 mo | − | + | − | − | 563 G → A (G188E) | Reduced | |
| 4 | Asymptomatic (symptomatic brother) | − | − | − | − | 563 G → A (G188E) | Reduced | |
| 5 | 15 mo | − | − | − | + | Recurrent enterocutaneous fistulas; multiple episodes of polymicrobial sepsis | 608G → A (C203Y) | Reduced |
| 6 | 9 mo | − | + | − | − | E99KfsX129 | Absent | |
| 7 | 9 y | + | − | − | − | 497G → T, R166I | NE | |
| 8 | 7 mo | − | + | + | − | 1141C → T (R381X) | Reduced | |
| 9 | Infancy | − | + | − | − | 1481 T → A (I494N) | NE | |
| 10 | 4 mo | − | + | + | − | 1445 C → G (P482R) | Reduced | |
| 11 | 1 y | + | − | + | − | Repeated infections: pneumonia, otitis media, history of paracentesis, mastoidectomy | 1189 delA (I397fsX414) | Absent |
| 12 | 1 y | + | − | + | − | 387_390del (D130fsX140) | Not reported | |
| 13 | 3 mo | − | + | − | − | Gross Deletion Exons 1-5 | Absent | |
| 14 | 1 y | − | − | − | + | Recurrent fevers; pneumococcal sepsis. | 758 C → G (S253X) | Absent |
| 15 | 3 y | − | + | − | − | Ventricular septal defect | 356_359del (N119fs384) | NE |
| 16 | 7 y | + | + | − | − | 1141C → T (R381X) | Reduced | |
| 17 | 8 y | + | − | + | − | 310 C → T (Q104X) | Absent | |
| 18 | Infancy | − | + | − | − | Liver failure in infancy required liver transplantation; nodular lung disease; positive CMV and fungal elements | Gross deletion exon 6 | Truncated (robust detection of a smaller molecular weight protein by Western blot) |
| 19 | 17 y | + | − | − | − | 894_898 del 5 (K299fsX307) | Absent |
Not examined.