Table 4.
Clinical characteristics observed in deceased patients
| ID no. | Genotype | Stratum | Time from diagnosis to HCT, d | Age at HCT, d | Time from HCT to death, mo | Donor type | Conditioning | Infection status at time of HCT | Post-HCT infection | GVHD | Cause of death |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Diagnosed by family history or NBS | |||||||||||
| 1 | IL2RG | A | 30 | 30 | 12.4 | URD | None | Never infected | None | aGVHD | Respiratory failure |
| 2 | Unknown | A | 21 | 49 | 2.3 | MMRD | None | Active (CMV) | CMV | None | CMV |
| 3 | RAG1 | A | 83 | 124 | 1.5 | UCB | MAC | Active (rhinovirus) | Rhinovirus, adenovirus | None | SOS (with pulmonary hemorrhage, liver failure) |
| 4 | IL2RG | A | 69 | 69 | 3.9 | URD | RIC | Never infected | EBV PTLD, polymicrobial sepsis | None | EBV, sepsis, multiorgan Failure |
| 5 | RMRP | B | 85 | 113 | 4.5 | UCB | MAC | Active (VRE) | Unknown | None | SOS (respiratory failure) |
| 6 | IL2RG | A | 77 | 109 | 7.2 | URD | MAC | Active (CMV); resolved (Staphylococcus, Candida) | CMV, EBV, aspergillosis | None | Multiple infections (CMV, EBV, aspergillosis) |
| Diagnosed by infection or other clinical signs | |||||||||||
| 7 | IL2RG | A | 25 | 220 | 0.3 | UCB | IS | Active (RSV, PJP) | RSV, PJP | None | RSV, PJP |
| 8 | Unknown | B | 123 | 182 | 5.9 | UCB | RIC | Resolved (Staphylococcus, Candida) | Enterococcus faecalis sepsis | aGVHD | GVHD, sepsis |
| 9 | RAG1 | B | 62 | 114 | 0.9 | UCB | RIC | Active (CMV) | CMV | None | CMV |
| 10 | JAK3 | B | 45 | 764 | 26.5 | URD | MAC | Active (CMV) | Unknown | None | Encephalopathy |
| 11 | LIG4 | A | 117 | 1630 | 6.9 | UCB | IS | Active (Pseudomonas); resolved (Enterococcus, Candida) | Unknown | aGVHD | GVHD, HLH |
HLH, Hemophagocytic lymphohistiocytosis; PTLD, posttransplant lymphoproliferative disease; VRE, vancomycin-resistant enterococcus.