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

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
Subjects:	deficiency of adenosine deaminase 2 ADA2 gene CECR1 gene children hemiplegia
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1478581/full
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