ArticleOxford medical case reports2025
Leukocytoclastic Vasculitis in IL-12RB1 deficiency: a rare manifestation of Mendelian susceptibility to mycobacterial disease.
Article in Oxford medical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Mendelian susceptibility to mycobacterial disease: IFN-γ-driven immunity collapse underlies heterogeneous infections.Frontiers in immunology · 2026Review
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6 authors.
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No grant is acknowledged in the PubMed 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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