Diagnostic and therapeutic recommendations for patients with RD
| Diagnosis . | Therapy . |
|---|---|
| Consider RD in any newborn with unexplained neutropenia | Myeloid engraftment is crucial for permanent cure |
| Confirmation by | Myeloid engraftment is supported by |
| Immunophenotyping | Conditioning with myeloablative agents |
| Hearing test | Transplantation with T-cell replete transplants |
| Bone marrow morphology | In case of primary or secondary graft failure, early retransplantation is recommended |
| Genetic analysis of AK2 |
| Diagnosis . | Therapy . |
|---|---|
| Consider RD in any newborn with unexplained neutropenia | Myeloid engraftment is crucial for permanent cure |
| Confirmation by | Myeloid engraftment is supported by |
| Immunophenotyping | Conditioning with myeloablative agents |
| Hearing test | Transplantation with T-cell replete transplants |
| Bone marrow morphology | In case of primary or secondary graft failure, early retransplantation is recommended |
| Genetic analysis of AK2 |