article_metadata: Eyal Grunebaum Nicholas Campbell Matilde Leon-Ponte Xiaobai Xu Hugo Chapdelaine
article_metadata: 10.3389/fimmu.2020.01257
article_metadata: Front Immunol
article_metadata: 2020 Jun 30;11:1257.
article_metadata: deficiency gene therapy mutations partial purine nucleoside phosphorylase
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/32695102/
article_metadata: Neurogenesis / genetics Neurogenesis / immunology Primary Immunodeficiency Diseases / immunology Primary Immunodeficiency Diseases / metabolism Purine-Nucleoside Phosphorylase / deficiency Purine-Nucleoside Phosphorylase / metabolism Purine-Pyrimidine Metabolism, Inborn Errors / immunology Purine-Pyrimidine Metabolism, Inborn Errors / metabolism
article_metadata: Neurogenesis / genetics Neurogenesis / immunology Primary Immunodeficiency Diseases / immunology Primary Immunodeficiency Diseases / metabolism Purine-Nucleoside Phosphorylase / deficiency Purine-Nucleoside Phosphorylase / metabolism Purine-Pyrimidine Metabolism, Inborn Errors / immunology Purine-Pyrimidine Metabolism, Inborn Errors / metabolism Case Reports Research Support, Non-U.S. Gov't Adult Alleles DNA Mutational Analysis Enzyme Activation Female Genotype Humans Immunophenotyping Lymphocytes / immunology Lymphocytes / metabolism Lymphocytes / radiation effects Male Mutation Pedigree Primary Immunodeficiency Diseases / genetics Primary Immunodeficiency Diseases / therapy Purine-Nucleoside Phosphorylase / genetics Purine-Nucleoside Phosphorylase / immunology Purine-Pyrimidine Metabolism, Inborn Errors / genetics Purine-Pyrimidine Metabolism, Inborn Errors / therapy Purines / chemistry Radiation Tolerance Young Adult Purines Purine-Nucleoside Phosphorylase purine Purine Nucleoside Phosphorylase Deficiency
article_metadata: PMC7338719
article_metadata: 32695102
article_metadata: Partial Purine Nucleoside Phosphorylase Deficiency Helps Determine Minimal Activity Required for Immune and Neurological Development
article_metadata: 2020