Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
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
The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature.
Fekrvand S et al.
Immunological Investigations, 2019
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.
Aluri J et al.
Frontiers in Immunology, 2019
Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India.
Madkaikar MR et al.
Bmj Case Reports, 2011
Purine nucleoside phosphorylase deficiency: a mutation update.
Walker PL et al.
Nucleosides, Nucleotides & Nucleic Acids, 2011
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