Partial Purine Nucleoside Phosphorylase Deficiency Helps Determine Minimal Activity Required for Immune and Neurological Development

Introduction: Complete or near complete absence of the purine nucleoside phosphorylase (PNP) enzyme causes a profound T cell immunodeficiency and neurological abnormalities that are often lethal in infancy and early childhood. We hypothesized that patients with partial PNP deficiency, characterized...

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Bibliographic Details
Main Authors: Eyal Grunebaum, Nicholas Campbell, Matilde Leon-Ponte, Xiaobai Xu, Hugo Chapdelaine
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-06-01
Series:Frontiers in Immunology
Subjects:
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2020.01257/full