Matched Unrelated Bone Marrow Transplant for Omenn Syndrome
Bibliographic record
Abstract
Little information is currently available on the outcome and the long term restoration of immune function in infants with Omenn syndrome (OS) treated with bone marrow transplantation (BMT). We prospectively followed patients with OS who received matched unrelated donor bone marrow transplantation at our center. Engraftment, immune reconstitution and transplant-related complications were recorded. Humoral and cellular immunity were evaluated. Six patients with OS were diagnosed at a mean age of 4.6 months. Two had mutations in the RMRP gene, one had mutations in DNA Ligase 4, while the rest genotype could not be determined. They received a matched unrelated donor bone marrow transplantation as the first BMT at the mean age of 9.4 months. All six patients are alive and well at a mean 95 months after transplant. All patients have evidence of full hemopoetic engraftment and robust immune reconstitution. Three out of six patients developed GvHD of Grade II or more, which was reversed in all patients by using short courses of high dose methylprednisolone. We have shown here that matched unrelated donor bone marrow transplantation is highly effective in curing patients with Omenn syndrome regardless of their genotype. This mode of treatment should be preferred for patients with OS when a related identical donor is not available.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".