Wiskott-Aldrich syndrome caused by a novel mutation in the <i>WAS</i> gene and presenting with a mild phenotype
Why this work is in the frame
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Bibliographic record
Abstract
Background: Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder associated with combined immunodeficiency, microthrombocytopenia, eczema, and an increased risk of autoimmunity and cancer. Aim: To report the clinical presentation, immune features, and genetic mutation in a patient with a novel mutation in the Wiskott-Aldrich syndrome (WAS) gene, causing a mild phenotype of WAS. Methods: The patient’s chart was reviewed. We report the phenotypical and laboratory characteristics of a patient with a mild phenotype of WAS identified by WAS gene sequence analysis. Results: Our patient presented with thrombocytopenia and 3 episodes of otitis media at 24 months of age, with no other significant manifestations suggestive of immunodeficiency or immune dysregulation. A missense mutation was found in exon 12 of the WAS gene, C1498>T, leading to a Trp500Arg amino acid change. Currently, he is 15 years old and remains in good health, free of infections or other complications to date. Conclusion: Genetic analysis is helpful for the diagnosis of WAS; our patient’s mutation was found to cause a mild phenotype. Statement of novelty: We describe a patient with a mild phenotype of WAS with a novel mutation in the WAS gene, thus, expanding the spectrum of WAS gene mutations.
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Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| 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) | 0.000 | 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 it