AUTHOR=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 TITLE=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 JOURNAL=Frontiers in Immunology VOLUME=15 YEAR=2025 URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2024.1504816 DOI=10.3389/fimmu.2024.1504816 ISSN=1664-3224