ArticleCureus2024
Purine Nucleoside Phosphorylase Deficiency: A Case Report of an Extremely Rare Disorder.
Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
3 citing papers in PubMed.
- Alpha-ketoglutarate accelerates granulocyte-monocyte progenitor differentiation and atherosclerotic plaque inflammation via oxoglutarate receptor 1.Redox biology · 2026Article
- Integration of Mendelian randomization and transcriptome wide association studies for causal gene identification in ovarian cancer genetic architecture.Discover oncology · 2025Article
- The Success of Newborn Screening Beyond War: An International Collaborative Case of Purine Nucleoside Phosphorylase (PNP) Deficiency.International journal of neonatal screening · 2025Article
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purine nucleoside phosphorylase (PNP) deficiency is one of the very rare types of immune deficiency disorders inherited in an autosomal recessive (AR) manner. PNP deficiency is a progressive immune disorder that can range from severe combined immunodeficiency (SCID) to combined immunodeficiency and is associated with recurrent infections, neurological manifestations, and sometimes autoimmune disorders. In our case, we describe the case of a female patient, two years and six months old, with recurrent infections, severe neutropenia, failure to thrive, and a history of a deceased sister with the same condition. She was diagnosed with PNP through genetic testing, which confirmed the homozygous variant c.46T>C p.(Trp16Arg) in PNP, in addition to clinical manifestations and the positive history of her sister.
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Registered trials
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