Leukocytoclastic Vasculitis in IL-12RB1 deficiency: a rare manifestation of Mendelian susceptibility to mycobacterial disease
Bibliographic record
Abstract
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic condition caused by mutations in the interleukin-12/interferon-gamma pathway, leading to vulnerability to infection by weakly virulent mycobacteria. IL-12Rβ1 deficiency, the most common cause of MSMD, has rarely been associated with cutaneous leukocytoclastic vasculitis (LCV). We report the case of a 9-year-old girl with IL-12Rβ1 deficiency who presented with recurrent maculopapular skin lesions confirmed as LCV on biopsy. The patient's clinical course included disseminated BCGitis, a history of kidney anomalies, and periodic erythematous rashes exacerbated by physical pressure. Laboratory findings revealed elevated inflammatory markers and immune dysregulation, and a skin biopsy confirmed leukocytoclastic vasculitis. Treatment with topical corticosteroids and antihistamines resulted in clinical improvement. This case highlights the importance of recognizing LCV as a potential manifestation of IL-12Rβ1 deficiency and underscores the need for a multidisciplinary approach in managing these patients.
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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 | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| 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) | 0.001 | 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".