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

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

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 Mendelia...

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Bibliographic Details
Main Authors: Qin Ying Lim, Daniel Leung, Crystal K. Lam, Xingtian Yang, Kai N. Cheong, Andrew K. H. Yik, Jing Yang, Koon-Wing Chan, Pamela P. W. Lee, Miyuki Tsumura, Elaine Y. L. Au, Jaime S. Rosa Duque, Satoshi Okada, Yu Lung Lau
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Immunology
Subjects:
STAT1 loss-of-function
BCG osteomyelitis
Mendelian susceptibility to mycobacterial diseases
germline mosaicism
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2024.1504816/full
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