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High Risk Screening of Adenosine Deaminase and Purine Nucleoside Phosphorylase Deficiency in Japan

 

作者: Takamasa Kishi,   Nobuo Sakura,   Kazuhiko Ito,   Tomofusa Usui,  

 

期刊: Pediatrics International  （WILEY Available online 1987）
卷期: Volume 29, issue 1  

页码: 152-154

 

ISSN:1328-8067

 

年代: 1987

 

DOI:10.1111/j.1442-200X.1987.tb00022.x

 

出版商: Blackwell Publishing Ltd

 

关键词: Adenosine deaminase;Purine nucleoside phosphorylase;neonatal screening;immunodeficiency

 

数据来源: WILEY

 

摘要:

AbstractSeventy‐three patients with immunodeficiency syndromes or frequent infections were screened for adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP) deficiency by the dried blood spot paper method. Among 23 patients with combined immunodeficiency, five patients with ADA deficiency were detected. In the light of the incidence of primary immunodeficiencies and financial limitation, it seems to be adequate to put screening for ADA&PNP deficiency in force for all infants with signs of an immune defec

 

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