Article
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.
Frontiers in immunology - 1 Jan 2024
Lim Qin Ying, Leung Daniel, Lam Crystal K, Yang Xingtian, Cheong Kai N, Yik Andrew K H, Yang Jing, Chan Koon-Wing, Lee Pamela P W, Tsumura Miyuki, Au Elaine Y L, Rosa Duque Jaime S, Okada Satoshi, Lau Yu Lung
Abstract excerpt
Signal transducer and activator of transcription 1 (STAT1) gene mutations have broad clinical phenotypes, classified by the inheritance pattern and functional state. Individuals with autosomal dominant STAT1 deficiency are more susceptible to intracellular bacteria, the hallmark of which is Mendelian susceptibility to mycobacterial diseases (MSMDs) that are associated with increased risks of invasive disease by...
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