Abstract
The authors describe a patient with autosomal-recessive severe combined immunodeficiency (SCID) with severe, multiorgan cytomegalovirus (CMV) disease. In the face of appropriate therapy, the patient developed a 100-fold gradient in viral load across the blood-brain barrier. Disseminated disease, including pneumonitis, contributed to a fatal outcome. Serial genotypic analyses revealed multiple UL97 and UL54 (DNA polymerase) mutations that conferred phenotypic resistance to all currently licensed systemic CMV antivirals.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adult
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Antiviral Agents / therapeutic use
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Cell Compartmentation
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Chromosome Aberrations
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Cytomegalovirus / drug effects
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Cytomegalovirus / isolation & purification*
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Cytomegalovirus / physiology
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Cytomegalovirus Infections / drug therapy
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Cytomegalovirus Infections / virology*
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DNA, Viral / analysis
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DNA-Directed DNA Polymerase / genetics
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Drug Resistance, Multiple, Viral*
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Fatal Outcome
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Genes, Recessive
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Humans
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Infant
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Male
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Mutation / genetics
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Phosphotransferases (Alcohol Group Acceptor) / genetics
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Polymerase Chain Reaction
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Severe Combined Immunodeficiency / genetics
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Severe Combined Immunodeficiency / virology*
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Viral Load
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Viral Proteins / genetics
Substances
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Antiviral Agents
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DNA, Viral
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UL54 protein, Human herpesvirus 5
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Viral Proteins
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Phosphotransferases (Alcohol Group Acceptor)
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ganciclovir kinase
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DNA-Directed DNA Polymerase