Monocytosis in a patient with a novel <i>GATA2</i> mutation
Bibliographic record
Abstract
GATA2-associated disorders include: (i) monocytopenia with mycobacterial infections (MonoMAC); (ii) dendritic cell, monocyte, B and NK lymphoid deficiency; (iii) familial myelodysplastic syndrome (MDS) and acute myeloid leukemia; and (iv) congenital deafness with lower limb lymphedema deficiency (Emberger syndrome). Markedly reduced or absent monocytes have been considered as the hallmark of the disease. Here we report on a patient that presented in infancy with hearing loss and lymphedema. By 4 years of age the patient developed acne, disseminated warts, lymphadenopathy, and MDS, yet with increased monocyte as well as normal NK- and B-cell numbers. The patient was found to have a novel mutation in GATA2 that was predicted to disrupt the C-terminal zinc finger. Importantly, and in contrast to common concepts, GATA2-associated syndromes might present with monocytosis. Statement of novelty: We describe a novel mutation in GATA2 associated with monocytosis.
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| 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".