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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 Bacil... by Qin Ying Lim, Qin Ying Lim, Daniel Leung, Crystal K. Lam, Xingtian Yang, Kai N. Cheong, Kai N. Cheong, Andrew K. H. Yik, Jing Yang, Koon-Wing Chan, Pamela P. W. Lee, Pamela P. W. Lee, Pamela P. W. Lee, Pamela P. W. Lee, Miyuki Tsumura, Elaine Y. L. Au, Jaime S. Rosa Duque, Jaime S. Rosa Duque, Jaime S. Rosa Duque, Satoshi Okada, Yu Lung Lau, Yu Lung Lau, Yu Lung Lau

    Published 2025-01-01
    “…We report a novel de novo heterozygous missense mutation in exon 23 of the STAT1 gene (NM_007315.4):c.2129C>T(p.Ser710Phe) (S710F), located in the transactivation domain (TAD) for two Chinese siblings, whereby the index patient presented with multifocal osteomyelitis after Bacillus Calmette–Guerin (BCG) vaccine, while the younger sibling was spared the infection, as BCG vaccination was withheld at birth. …”
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