article_metadata: 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
article_metadata: 10.3389/fimmu.2024.1504816
article_metadata: Front Immunol
article_metadata: 2025 Jan 7:15:1504816.
article_metadata: bcg osteomyelitis mendelian susceptibility to mycobacterial diseases stat1 loss-of-function case report germline mosaicism
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39840042/
article_metadata: BCG Vaccine / adverse effects BCG Vaccine / immunology Osteomyelitis / genetics Osteomyelitis / immunology STAT1 Transcription Factor / genetics Siblings
article_metadata: BCG Vaccine / adverse effects BCG Vaccine / immunology Osteomyelitis / genetics Osteomyelitis / immunology STAT1 Transcription Factor / genetics Siblings Case Reports East Asian People Female Genetic Predisposition to Disease Germ-Line Mutation Humans Loss of Function Mutation Male Mutation, Missense Pedigree STAT1 Transcription Factor STAT1 protein, human BCG Vaccine
article_metadata: PMC11747594
article_metadata: 39840042
article_metadata: 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
article_metadata: 2025