Associated Papers
Partial Purine Nucleoside Phosphorylase Deficiency: an Unexpected Diagnosis in an Adult Patient.
Ahuja M et al.
Journal of Clinical Immunology, 2026
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Purine Nucleoside Phosphorylase Deficient Severe Combined Immunodeficiencies: A Case Report and Systematic Review (1975-2022).
Habib Dzulkarnain SM et al.
Journal of Clinical Immunology, 2023
Partial Purine Nucleoside Phosphorylase Deficiency Helps Determine Minimal Activity Required for Immune and Neurological Development.
Grunebaum E et al.
Frontiers in Immunology, 2020
The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature.
Fekrvand S et al.
Immunological Investigations, 2019
Purine nucleoside phosphorylase deficiency: a mutation update.
Walker PL et al.
Nucleosides, Nucleotides & Nucleic Acids, 2011
Neighboring group participation in the transition state of human purine nucleoside phosphorylase.
Murkin AS et al.
Biochemistry, 2007
Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency.
Grunebaum E et al.
Nucleosides, Nucleotides & Nucleic Acids, 2004
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