A Cohort Study on Deficiency of ADA2 from China

Purpose Deficiency of adenosine deaminase 2 (DADA2), an autosomal recessive autoinflammatory disorder caused by biallelic loss-of-function variants in adenosine deaminase 2 (ADA2), has not been systemically investigated in Chinese population yet. We aim to further characterize DADA2 cases in China....

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Journal of clinical immunology 2023-05, Vol.43 (4), p.835-845
Hauptverfasser:	Li, Guo-min, Han, Xu, Wu, Ye, Wang, Wei, Tang, Hong-xia, Lu, Mei-ping, Tang, Xue-mei, Lin, Yi, Deng, Fan, Yang, Jun, Wang, Xin-ning, Liu, Cong-cong, Zheng, Wen-jie, Wu, Bing-bing, Zhou, Fang, Luo, Hong, Zhang, Liang, Liu, Hai-mei, Guan, Wan-zhen, Wang, Shi-hao, Tao, Pan-feng, Jin, Tai-jie, Fang, Ran, Wu, Yuan, Zhang, Jie, Zhang, Yao, Zhang, Tian-nan, Yin, Wei, Guo, Li, Tang, Wen-jing, Chang, Hong, Zhang, Qiu-ye, Li, Xiao-zhong, Li, Jian-guo, Zhou, Zhi-xuan, Yang, Si-rui, Yang, Kang-kang, Xu, Hong, Song, Hong-mei, Deuitch, Natalie T., Lee, Pui Y., Zhou, Qing, Sun, Li
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosine Adenosine deaminase Adenosine Deaminase - genetics Biomedical and Life Sciences Biomedicine bone marrow cell transplantation childhood Children China Cohort analysis Cohort Studies Diagnosis early diagnosis Enzymatic activity enzyme activity Genetic screening genotype Genotypes hematologic diseases Hematological diseases Hematopoietic stem cells Hereditary diseases Humans Immunology Infectious Diseases inflammation Intercellular Signaling Peptides and Proteins - genetics Internal Medicine loss-of-function mutation Medical Microbiology Mutation Original Original Article Pathogenicity Patients Phenotypes Remission Retrospective Studies Rheumatology Stem cell transplantation Vasculitis
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!