A Unique Complex Variation Profile in a Patient with Familial Mediterranean Fever (FMF): Triple Homozygous E148Q-P369S-R408Q – “Case Report”
Bibliographic record
Abstract
Nour Abi Chakra,1,* Nadine Yazbeck,2,* Mohammad Omar Fattah,3 Rima Hanna-Wakim2,4,5 1American University of Beirut, Beirut, Lebanon; 2Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon; 3Military Hospital, Beirut, Lebanon; 4Division of Pediatric Infectious Diseases, Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon; 5Center for Infectious Disease Research, American University of Beirut, Beirut, Lebanon*These authors contributed equally to this workCorrespondence: Rima Hanna-Wakim, Division of Pediatric Infectious Diseases, Department of Pediatrics and Adolescent Medicine, American University of Beirut, Riad El Solh, Beirut, Lebanon, Tel +961 3 267822, Email rh08@aub.edu.lbAbstract: Familial Mediterranean fever (FMF) is an inherited autoinflammatory disorder resulting in recurrent fever, polyserositis, and arthralgias. It is caused by mutations in the MEFV (Mediterranean Fever) gene. We report a Lebanese pediatric patient with typical FMF symptoms and unique triple homozygous variations E148Q-P369S-R408Q in the MEFV gene. This is the second-ever reported case with this specific triple homozygous variation.Keywords: familial Mediterranean fever, complex variation profile, triple homozygous, E148Q-P369S-R408Q
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How this classification was reachedexpand
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 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.002 | 0.000 |
| Bibliometrics | 0.002 | 0.003 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.002 | 0.001 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.013 | 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 teacher head, 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".