Disseminated Salmonellosis and cutaneous vasculitis in a child with IL12Rß1 deficiency – a case report & review of literature.
Bibliographic record
Abstract
Mendelian susceptibility to mycobacterial disease (MSMD) is a group of genetic disorders characterized by a defect in interferon γ (IFN γ)–mediated immunity, with predisposition to infections caused by atypical and low virulent mycobacteria. We describe a 10-year-old boy, presented with left inguinal and submandibular lymphadenopathy with low grade fever for 10 days. Past history was significant and at the age of 4 months and 5 years, he was diagnosed to have tubercular axillary lymphadenitis and was treated with anti-tubercular drugs on each occasion. On examination, he had left submandibular and inguinal lymphadenopathy and mild splenomegaly. He underwent left inguinal lymph node biopsy that reported granulomatous lymphadenitis and culture reported growth of Salmonella enterica. Genetic evaluation showed pathogenic homozygous mutation of IL12Rß1 gene. A diagnosis of MSMD was established and he was treated with antibiotics to which he responded promptly. A detailed review of literature on IL12RB1 deficiency was performed. Index case has been discussed in light of the previously published literature.
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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 | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.003 | 0.002 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| 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".