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.
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| 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. |
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| Authors: | Lim QY; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, Hong Kong SAR, China.; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China., Leung D; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China., Lam CK; Division of Clinical Immunology, Department of Pathology, Queen Mary Hospital, Hong Kong, Hong Kong SAR, China., Yang X; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China., Cheong KN; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China.; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China., Yik AKH; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China., Yang J; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China., Chan KW; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China., Lee PPW; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, Hong Kong SAR, China.; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China.; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China.; Department of Paediatrics, The University of Hong Kong - Shenzhen Hospital, Shenzhen, China., Tsumura M; Department of Paediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan., Au EYL; Division of Clinical Immunology, Department of Pathology, Queen Mary Hospital, Hong Kong, Hong Kong SAR, China., Rosa Duque JS; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, Hong Kong SAR, China.; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China.; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China., Okada S; Department of Paediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan., Lau YL; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, Hong Kong SAR, China.; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China.; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China. |
| Source: | Frontiers in immunology [Front Immunol] 2025 Jan 07; Vol. 15, pp. 1504816. Date of Electronic Publication: 2025 Jan 07 (Print Publication: 2024). |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1664-3224 |
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| DOI: | 10.3389/fimmu.2024.1504816 |
