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Neurologic Status of Patients With Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation

2023-07-18

Abstract excerpt

<title>Abstract</title> <p>Background Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive combined immunodeficiency. The phenotype is profound T-cell deficiency with variable B- and NK-cell functions and results in recurrent and persistent infections that typically begin in the first year of life. Neurologic findings occur in approximately two-thirds of patients. The mechanism of neuro...

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Literature Corpus work
b72fcbef-6f1e-5138-aa63-62e42f52af53
DOI
10.21203/rs.3.rs-3153599/v1
Open publication

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