A mutation in the <i>STAT1</i> DNA-binding domain associated with hemophagocytic lymphohistocytosis
Why this work is in the frame
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
Bibliographic record
Abstract
Introduction: The transcription factor Signal Transducer and Activator of Transcription 1 (STAT1) is a key element in many of the signalling cascades involved in immune system function. Different mutations in STAT1 are associated with heterogeneous clinical phenotypes that range from early fatality due to overwhelming infection to limited involvement of the mucus membrane with recurrent Candida infections. Multiple genes related to immune function have been associated with the development of hemophagocytic lymphohistiocytosis (HLH), but the association between STAT1 mutation and HLH has not been described in detail. Methods: We report the genetic background of a patient with chronic mucocutaneous candidiasis (CMC) as well as an unusual clinical course. Results: In this study we describe a patient with a mutation in the STAT1 DNA-binding domain and a history of CMC who developed a refractory and fatal case of HLH despite having bone marrow transplantation. Conclusion: We describe a patient with refractory and fatal HLH who was found to have a mutation in the DNA-binding domain of STAT1. Statement of novelty: The association of chronic mucocutaneous candidiasis with HLH.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.002 | 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