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Case report: A novel de novo germline loss-of-function mutation in the STAT1 transactivation domain in two Chinese siblings, with the elder sibling presenting with multifocal Bacillus Calmette-Guerin osteomyelitis.
Lim QY, Leung D, Lam CK, Yang X, Cheong KN, Yik AKH, Yang J, Chan KW, Lee PPW, Tsumura M, Au EYL, Rosa Duque JS, Okada S, Lau YL. Lim QY, et al. Among authors: yang x. Front Immunol. 2025 Jan 7;15:1504816. doi: 10.3389/fimmu.2024.1504816. eCollection 2024. Front Immunol. 2025. PMID: 39840042 Free PMC article.
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