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Recent advances in molecular biology have greatly expanded our ability to determine the causes of patients' infections when routine strategies have failed. A novel technique was crucial in the case of a 14-year-old boy with severe combined immunodeficiency who was hospitalized three times over 4 months for fever and headache that progressed to hydrocephalus and status epilepticus, requiring a medically induced coma.
Extensive testing for infectious agents, including polymerase chain reaction (PCR) assays, was performed on serum, cerebrospinal fluid (CSF), and brain-biopsy samples, all with negative results. When the patient continued to decline without any clear response to empirical therapy, he was enrolled in a study for pathogen detection…