Clinical characteristics in two patients with RD
| . | UPN1 . | UPN2 . |
|---|---|---|
| Gender | Female | Female |
| Body weight (g) | 3,086 | 3,068 |
| Gestation (week) | 38 | 36 |
| TREC (copies/μl) | 0 | <10 copies/µg DNA |
| KREC (copies/μl) | 0 | NA |
| ANC (×109/L) | 0.04 | 0.01 |
| ALC (×109/L) | 0.06 | 0.14 |
| CD3+ (×109/L) | 0.05 | 0.01 |
| CD4+CD45RA+ (×109/L) | 0.01 | 0.01 |
| CD19+ (×109/L) | 0.01 | 0.04 |
| CD16+CD56+ (×109/L) | 0.01 | 0.03 |
| Physical findings | Athymia, ventricular septal defect, sensorineural deafness | Thymic hypoplasia, sensorineural deafness |
| Gene variants | AK2, NM_001625.4: c.498+1G>A and c.409C>T, p.Arg137Ter | AK2, NM_001625.4: c.308G>A, p.Arg103Gln and c.409C>T, p.Arg137Ter |
| Total period of rhG-CSF administration before HSCT (days) | 129 | 78 |
| Dose of rhG-CSF | 40 µg/total | 75 µg/total |
| Conditioning regimen | BU + CY | FLU + MEL |
| Graft source | UR-CBT | R-BMT |
| . | UPN1 . | UPN2 . |
|---|---|---|
| Gender | Female | Female |
| Body weight (g) | 3,086 | 3,068 |
| Gestation (week) | 38 | 36 |
| TREC (copies/μl) | 0 | <10 copies/µg DNA |
| KREC (copies/μl) | 0 | NA |
| ANC (×109/L) | 0.04 | 0.01 |
| ALC (×109/L) | 0.06 | 0.14 |
| CD3+ (×109/L) | 0.05 | 0.01 |
| CD4+CD45RA+ (×109/L) | 0.01 | 0.01 |
| CD19+ (×109/L) | 0.01 | 0.04 |
| CD16+CD56+ (×109/L) | 0.01 | 0.03 |
| Physical findings | Athymia, ventricular septal defect, sensorineural deafness | Thymic hypoplasia, sensorineural deafness |
| Gene variants | AK2, NM_001625.4: c.498+1G>A and c.409C>T, p.Arg137Ter | AK2, NM_001625.4: c.308G>A, p.Arg103Gln and c.409C>T, p.Arg137Ter |
| Total period of rhG-CSF administration before HSCT (days) | 129 | 78 |
| Dose of rhG-CSF | 40 µg/total | 75 µg/total |
| Conditioning regimen | BU + CY | FLU + MEL |
| Graft source | UR-CBT | R-BMT |
UPN, unique patient number; ANC, absolute neutrophil count; ALC, absolute lymphocyte count; TREC, T cell receptor excision circle; KREC, κ-deleting recombination excision circle; HSCT, hematopoietic stem cell transplantation; G-CSF, granulocyte colony-stimulating factor; BU, busulfan; CY, cyclophosphamide; MEL, melphalan; UR-CBT, unrelated cord blood transplantation; R-BMT, related bone marrow transplantation; NA, not assessed.