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Adult-onset deficiency of adenosine deaminase 2-a case report and literature review.

Clinical rheumatology - 1 Oct 2021

Zhang Bingqing, Sun Yang, Xu Na, Wang Wei, Huang Xiaoming, Chen Jialin, Shen Min, Wang Rongrong, Zeng Xuejun, Zhang Xue

Abstract excerpt

Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease caused by ADA2 gene mutation that is characterized by three phenotype domains: vasculopathy and inflammation, hematological abnormality, and immunodeficiency. Most patients are pediatric patients; adult-onset patients are only occasionally reported. To describe a Chinese case of adult-onset DADA2 in a Chinese patient and explore the...

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PMID: 33638065
DOI: 10.1007/s10067-021-05587-w

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