A Patient with a Phenotype of Adult-onset Still Disease, But a Genotype Typical of Cryopyrin-associated Periodic Fever Syndrome
Bibliographic record
Abstract
To the Editor: Cryopyrin-associated periodic fever syndrome (CAPS) is a group of genetic diseases consisting of familial cold autoinflammatory syndrome (FCAS) and presenting with urticaria triggered by cold, Muckle-Wells syndrome (MWS) with fever, hearing loss, rash and joint pain, and neonatal onset multisystem inflammatory disease (NOMID), a severe neonatal disease. CAPS is associated with mutations in the NLRP3 gene1,2. NLRP3 associates with the proteins ASC and pro-caspase 1 to form the NLRP3 inflammasome, which is important for activation of pro–inter-leukin 1β (IL-1β) to mature IL-1β. Consequently, CAPS can be treated with anti-IL-1β therapy. Some patients with more diffuse inflammatory symptoms together with NLRP3 mutations have been classified as “atypical” CAPS3. We describe a patient with inflammatory symptoms fulfilling criteria of adult-onset Still disease (AOSD) but with a genotype typical of CAPS. A 32-year-old man with previously known thrombophlebitis related to activated protein C resistance presented in May 2009 with sore throat, relapsing fever above 39°C especially in the afternoon, cervical adenitis, and transient maculopapular exanthema. C-reactive protein (CRP) was 192 mg/l, leukocyte count 11.3 × 109/l (ref < 8.8), neutrophils 8.2 × 109/l, aspartate aminotransferase 1.6 μkat/l (ref < 0.76), alanine aminotransferase 2.5 μkat/l (ref < 1.2), and lactate dehydrogenase 9.7 μkat/l (ref < 3.5). … Address correspondence to Dr. P. Eriksson, Department of Rheumatology, University Hospital, 581 85 Linköping, Sweden. E-mail: per.eriksson{at}lio.se
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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 | 0.006 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.002 |
| Open science | 0.002 | 0.001 |
| Research integrity | 0.007 | 0.005 |
| 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".