Table 1.
Baseline Patient Characteristics
| UPN | Transplant # (prior conditioning) | Age at HCT | Sex | Race / Ethnicity | Mutation | CD3 (x10^6/L) | CD4 (x10^6/L) | CD4 / CD45RA (%) | CD8 (x10^6/L) | CD19 (x10^6/L) | CD16/56 (x10^6.L) | PHA | ANC (x10^6/L) | Pre-HCT Infection |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1533 | 2 (Flu) | 10 mo | M | Caucasian | IL2RG (c.868G>A)1 | 869* | 404 | 2% | 273 | 51 | 81 | ND | 440 | PCP (pre-NBS) |
| 1713 | 2 (None) | 9 yo | M | Native American | DCLRE1C (c.597C>A, homozygous)1 | 324* | 195 | 0% | 140 | 0 | 66 | 85% | 750 | Noro (NBS) |
| 1740 | 1 | 3 mo | F | Hispanic | RAG1 (c,1420C>T; c.1267T>C) | 166 | 116 | 3% | 33 | 183 | 1262 | 47% | 470 | None (NBS) |
| 1799 | 2 (aCD52) | 6 mo | M | Hispanic | BCL11B (c.l323T>G) | 27 | 13 | 17% | 0 | 958 | 306 | 37% | 3830 | None (NBS) |
| 1835 | 1 | 2.5 mo | F | Caucasian | RAG1 (c.2258A>T; c2522G>A)) | 110 | 92 | 0% | 18 | 156 | 635 | 19% | 3210 | CMV (NBS) |
| 1837 | 1 | 4 mo | F | Caucasian | RAG2 (c,1583A>G; c,104G>C) | 46 | 32 | 33% | 13 | 0 | 135 | 100% | 1550 | None (NBS) |
| 1875 | 2 (None) | 13 mo | F | Native American | DCLRE1C (c.597C>A, homozygous)1 | 44* | 36 | 3% | 2 | 0 | 130 | 1% | 1610 | Noro (pre-NBS) |
| 1947 | 1 | 3 mo | F | Hispanic | RAG1 (c,1210C>T; c.2867T>C) | 67 | 50 | 16% | 17 | 0 | 409 | 12% | 150 | None (NBS) |
| 2046 | 3 (None; rATG) | 6 mo | F | Native American | DCLRE1C (c.597C>A, homozygous)1 | 0 | 0 | 0% | 0 | 0 | 202 | 0% | 970 | None (NBS) |
| 2078 | 1 | 4 mo | M | Hispanic | Unknown2 | 128 | 115 | 17% | 0 | 819 | 205 | 70% | 280^ | None (NBS) |
UPN, Unique Patient Number; PHA, phytohemagglutinin; ANC, absolute neutrophil count; Flu, Fludarabine; aCD52, Alemtuzumab; rATG, Rabbit Anti-Thymocyte Globulin; CMV, cytomegalovirus; NBS, newborn screening; PCP, Pneumocystis carinii pneumonia; Noro, Norovirus.
*
Transplacental Maternal Engraftment noted.
^
On granulocyte colony-stimulating factor pre-HCT.
1
Typical SCID (per Primary Immunodeficiency Treatment Consortium definitions).
2
Whole Genome Sequencing pending.