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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Detalles Bibliográficos
Autores principales: Grunebaum, Eyal, Campbell, Nicholas, Leon-Ponte, Matilde, Xu, Xiaobai, Chapdelaine, Hugo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7338719/
https://www.ncbi.nlm.nih.gov/pubmed/32695102
http://dx.doi.org/10.3389/fimmu.2020.01257

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7338719/
https://www.ncbi.nlm.nih.gov/pubmed/32695102
http://dx.doi.org/10.3389/fimmu.2020.01257

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