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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 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.
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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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Lim+QY%22">Lim QY</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Leung+D%22">Leung D</searchLink>; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Lam+CK%22">Lam CK</searchLink>; Division of Clinical Immunology, Department of Pathology, Queen Mary Hospital, Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Yang+X%22">Yang X</searchLink>; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Cheong+KN%22">Cheong KN</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Yik+AKH%22">Yik AKH</searchLink>; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Yang+J%22">Yang J</searchLink>; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Chan+KW%22">Chan KW</searchLink>; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Lee+PPW%22">Lee PPW</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Tsumura+M%22">Tsumura M</searchLink>; Department of Paediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.<br /><searchLink fieldCode="AU" term="%22Au+EYL%22">Au EYL</searchLink>; Division of Clinical Immunology, Department of Pathology, Queen Mary Hospital, Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Rosa+Duque+JS%22">Rosa Duque JS</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Okada+S%22">Okada S</searchLink>; Department of Paediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.<br /><searchLink fieldCode="AU" term="%22Lau+YL%22">Lau YL</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101560960%22">Frontiers in immunology</searchLink> [Front Immunol] 2025 Jan 07; Vol. 15, pp. 1504816. <i>Date of Electronic Publication: </i>2025 Jan 07 (<i>Print Publication: </i>2024).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation]%22">Frontiers Research Foundation] </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101560960 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>1664-3224 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216643224%22">16643224 </searchLink><i>NLM ISO Abbreviation: </i>Front Immunol <i>Subsets: </i>MEDLINE
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        Value: 10.3389/fimmu.2024.1504816
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        Text: English
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      – TitleFull: 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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