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• W4206763184 startingPage "104428" @default.
• W4206763184 abstract "Purine nucleoside phosphorylase (PNP) is a key enzyme in the purine salvage pathway. PNP deficiency, caused by the autosomal recessive mutations in the PNP gene, can lead to severe combined immunodeficiency (SCID). PNP deficiency patients typically have profound T-cell deficiency with variable B and NK cell functions. They present clinically with recurrent infections, failure to thrive, various neurological disorders, malignancies, and autoimmune diseases. Hematopoietic stem cell transplantation (HSCT) is the only available cure for patients with PNP deficiency. We present three patients, two of whom were successfully treated with HSCT. One patient died prior to HSCT due to EBV-associated lymphoma. Over the course of post-HSCT, there was no further aggravation of the patients' neurological symptoms. Although both of the patients still had mild developmental delay, new developmental milestones were achieved." @default.
• W4206763184 created "2022-01-25" @default.
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• W4206763184 date "2022-03-01" @default.
• W4206763184 modified "2023-10-02" @default.
• W4206763184 title "Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients" @default.
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• W4206763184 doi "https://doi.org/10.1016/j.ejmg.2022.104428" @default.
• W4206763184 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35063692" @default.
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