Clinical characteristics of the 4 RS-SCID patients withArtemis gene mutations
| Patient . | Sex . | Age at diagnosis . | Diagnosis . | Consanguinity of parents . | Infections at diagnosis . | Treatment . | Outcome . |
|---|---|---|---|---|---|---|---|
| Artemis-1 | F | 5 mo | T−B−NK+ | Yes | PCP | BMT | Alive |
| Artemis-2 | F | 5 mo | TlowB−NK+* | Yes | PCP, CMV | BMT | No B-cell take; receives IVIG |
| Artemis-3.1 | M | 4 mo | T−B−NK+ | No | Persistent VZV infection | BMT | Died from disseminated infections |
| Artemis-3.2 | M | 1 d | T−B−NK+ | No | None | BMT | Died from multiorgan failure |
| Patient . | Sex . | Age at diagnosis . | Diagnosis . | Consanguinity of parents . | Infections at diagnosis . | Treatment . | Outcome . |
|---|---|---|---|---|---|---|---|
| Artemis-1 | F | 5 mo | T−B−NK+ | Yes | PCP | BMT | Alive |
| Artemis-2 | F | 5 mo | TlowB−NK+* | Yes | PCP, CMV | BMT | No B-cell take; receives IVIG |
| Artemis-3.1 | M | 4 mo | T−B−NK+ | No | Persistent VZV infection | BMT | Died from disseminated infections |
| Artemis-3.2 | M | 1 d | T−B−NK+ | No | None | BMT | Died from multiorgan failure |
PCP indicates Pneumocystis carinii pneumonia; BMT, BM transplantation; CMV, cytomegalovirus; IVIG, intravenous Ig substitution; and VZV, varicella-zoster virus.
Maternal T lymphocytes were shown to be present in her PB but did not cause graft-versus-host disease due to identical HLA.