Abstract
The clinical presentations of adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency are widely variable and include clinical and immunologic findings compatible with common variable immunodeficiency. The screening of 44 patients with common variable immunodeficiency failed to identify any individuals with deficiencies of these enzymes.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adenosine Deaminase / deficiency*
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Adenosine Deaminase / metabolism
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Adolescent
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Adult
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Child
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Child, Preschool
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Common Variable Immunodeficiency / enzymology*
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Female
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Humans
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Infant
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Infant, Newborn
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Male
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Purine-Nucleoside Phosphorylase / deficiency*
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Purine-Nucleoside Phosphorylase / metabolism
Substances
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Purine-Nucleoside Phosphorylase
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Adenosine Deaminase