The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature
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DOI: 10.1080/08820139.2019.1570249
Abstract: ABSTRACT Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive primary immunodeficiency disorder characterized by decreased numbers of T-cells, variable B-cell abnormalities, decreased amount of serum uric acid and PNP enzyme activity. The affected… read more here.
Keywords: purine nucleoside; pnp; recurrent infections; first purine ... See more keywords