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

Abstract

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 defect.