<i>TNFRSF1A</i> Gene Causing Tumor Necrosis Factor Receptor-associated Periodic Syndrome in 2 Siblings Displaying Variable Disease Severity and Discordant Heterozygosity for an <i>MEFV E148Q</i> Variant
Bibliographic record
Abstract
To the Editor: Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant periodic fever syndrome with pan-ethnic distribution caused by mutations in TNFRSF1A 1. To date, over 100 mutations have been described. Among whites, the R92Q mutation is the most frequently observed variant of the TNFRSF1A gene. R92Q is a missense low-penetrance gene mutation that is associated with a mild severity, high rate of spontaneous amelioration, and lower prevalence of amyloidosis compared with structural gene mutation variants2. Despite its relatively high prevalence in the general population, ranging from 1.2% to 4%, only 1 clinically ascertained patient has been described with homozygous R92Q variant3. We hereby describe 2 Omani sisters with TRAPS caused by homozygous R92Q variants in TNFRSF1A . One of the siblings also had associated E148Q variant in the MEFV gene. They both displayed severe phenotype with evident clinical variability. A 12-year-old girl presented at 18 months of age with frequent episodes of high-grade fever lasting between 5 to 14 days occurring … Address correspondence to Dr. R. Abdwani, Child Health Department, Sultan Qaboos University Hospital, P.O. Box 35, P C 123, Al Khod, Sultanate of Oman. E-mail: reemabd{at}hotmail.com
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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 | 0.001 | 0.003 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.004 | 0.003 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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".