Case Report: Novel ADA2 variants cause atypical adenosine deaminase 2 deficiency

Case presentationA girl aged 2 years and 5 months presented to the hospital with chief complaints of intermittent fever and weakness of the left limb for more than 1 month. The child had transient urticaria appearing on her face for 5 days. The inflammatory biomarkers were significantly increased. B...

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Bibliographic Details
Main Authors: Haishao Yu, Shuangzhu Lin, Lin Li, Jiayi Li, Qiandui Chen, Yuheng Wu, Yangfan Qi, Wanqi Wang, Xingzhi Chang, Jie Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Genetics
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Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1478581/full
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