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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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Auteurs principaux: Eyal Grunebaum, Nicholas Campbell, Matilde Leon-Ponte, Xiaobai Xu, Hugo Chapdelaine
Format: Artigo
Langue:Inglês
Publié: Frontiers Media S.A. 2020-06-01
Collection:Frontiers in Immunology
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Accès en ligne:https://www.frontiersin.org/article/10.3389/fimmu.2020.01257/full
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