Human genetics of Whipple's disease
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
PURPOSE OF REVIEW: Whipple's disease (WD), triggered by Tropheryma whipplei ( T. whipplei ), is a rare, chronic, inflammatory, systemic infectious disease that typically manifests in adults. The most frequent initial manifestations include arthritis, followed by diarrhea, abdominal pain, and weight loss. Half the world's population is exposed to T. whipplei , but only one in a million develop WD. This suggests that acquired or inborn errors of immunity (IEI) may underlie WD. Anti-TNF treatment is a well established risk factor for flare-ups of WD. RECENT FINDINGS: We have also reported two rare IEI in patients with WD. Six WD patients from two unrelated kindreds were found to have autosomal dominant IRF4 deficiency acting via a mechanism of haploinsufficiency. These patients were otherwise healthy. In addition, a single patient with a history of WD and other infections was found to have autosomal recessive CD4 deficiency. SUMMARY: Rare IEI can underlie WD. Human genetic studies of patients with WD are warranted for the development of precision medicine for affected kindreds and to improve our understanding of the pathogenesis of this rare infectious disease.
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 | 0.000 | 0.000 |
| 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) | 0.000 | 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