Abstract
Purine nucleoside phosphorylase deficiency is a primary immunodeficiency syndrome characterized by the triad of recurrent infection, neurologic dysfunction, and autoimmunity. This patient presented atypically with few infections and normal T-cell function. Progressive lymphopenia, ataxia, and developmental delay led to diagnosis. Umbilical cord blood transplantation corrected the immunodeficiency.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Cord Blood Stem Cell Transplantation*
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Developmental Disabilities / enzymology
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Developmental Disabilities / etiology
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Humans
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Immunologic Deficiency Syndromes / complications
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Immunologic Deficiency Syndromes / enzymology
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Immunologic Deficiency Syndromes / surgery*
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Infant
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Lymphopenia / enzymology
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Lymphopenia / etiology
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Male
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Purine-Nucleoside Phosphorylase / deficiency*
Substances
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Purine-Nucleoside Phosphorylase