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High Risk Screening of Adenosine Deaminase and Purine Nucleoside Phosphorylase Deficiency in Japan
Author(s) -
Kishi Takamasa,
Sakura Nobuo,
Ito Kazuhiko,
Usui Tomofusa
Publication year - 1987
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1987.tb00022.x
Subject(s) - purine nucleoside phosphorylase , adenosine deaminase , medicine , adenosine deaminase deficiency , incidence (geometry) , purine , primary immunodeficiency , nucleoside , severe combined immunodeficiency , immunology , immune system , adenosine , pediatrics , enzyme , biochemistry , biology , physics , optics , gene
Seventy‐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.