Eyal Grunebaum Nicholas Campbell Matilde Leon-Ponte Xiaobai Xu Hugo Chapdelaine
10.3389/fimmu.2020.01257
Front Immunol
2020 Jun 30;11:1257.
deficiency gene therapy mutations partial purine nucleoside phosphorylase
CC BY
https://pubmed.ncbi.nlm.nih.gov/32695102/
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
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
PMC7338719
32695102
Partial Purine Nucleoside Phosphorylase Deficiency Helps Determine Minimal Activity Required for Immune and Neurological Development
2020