Abstract
A 10-month-old girl with a history of recurrent candidiasis, developmental delay, and a fulminant varicella infection is described. The diagnosis of purine nucleoside phosphorylase (PNP) deficiency was suggested by a reduced level of serum uric acid and confirmed by measurement of PNP activity. A human leukocyte antigen-matched bone marrow transplantation resulted in immune reconstitution, but poor neurodevelopmental progression.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Alternative Splicing
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Amino Acid Substitution
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Bone Marrow Transplantation*
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Chromosome Aberrations
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Developmental Disabilities / genetics
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Developmental Disabilities / immunology
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Developmental Disabilities / physiopathology*
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Disease Progression
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Exons
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Female
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Humans
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Infant
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Lymphocyte Activation
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Lymphocyte Count
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Mutation, Missense
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Purine-Nucleoside Phosphorylase / deficiency*
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Purine-Pyrimidine Metabolism, Inborn Errors / genetics
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Purine-Pyrimidine Metabolism, Inborn Errors / immunology
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Purine-Pyrimidine Metabolism, Inborn Errors / therapy*
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Sequence Deletion
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Time Factors
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Treatment Outcome
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Uric Acid / blood
Substances
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Uric Acid
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Purine-Nucleoside Phosphorylase