Associated Papers
Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency with two novel mutations: a case report and review of literature.
Liu M et al.
Hematology (amsterdam, Netherlands), 2025
Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation.
Karaaslan BG et al.
Journal of Clinical Immunology, 2023
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
Recurrent infections, neurologic signs, low serum uric acid levels, and lymphopenia in childhood: Purine nucleoside phosphorylase deficiency, an emergency for infants.
Kütükçüler N et al.
Turk Pediatri Arsivi, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature.
Fekrvand S et al.
Immunological Investigations, 2019
Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency.
Abolhassani H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
A successful unrelated peripheral blood stem cell transplantation with reduced intensity-conditioning regimen in a patient with late-onset purine nucleoside phosphorylase deficiency.
Celmeli F et al.
Pediatric Transplantation, 2015
Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.
la Marca G et al.
The Journal of Allergy and Clinical Immunology, 2014
Purine nucleoside phosphorylase deficiency: a mutation update.
Walker PL et al.
Nucleosides, Nucleotides & Nucleic Acids, 2011
Purine nucleoside phosphorylase deficiency with fatal course in two sisters.
Aytekin C et al.
European Journal of Pediatrics, 2010
Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections.
Ozkinay F et al.
Journal of Child Neurology, 2007
Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency.
Grunebaum E et al.
Nucleosides, Nucleotides & Nucleic Acids, 2004