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Source of the Fever

With no sign of infection, doctors couldn't figure out what was causing an infant's high fever and diarrhea, and, as the Boston Globe's Carolyn Johnson reports, they turned to sequencing his genome to search for clues.

But as Johnson notes, it was too late. The infant died at 23 days old.

The researchers, led by Yale University's Richard Lifton, were able to pinpoint an interesting mutation in the NLRC4 gene, which is known to be involved in infection response, in the infant's genome, as they report in Nature Genetics this week. But the baby's father had the same mutation and was healthy.

However, the father also soon became ill, Johnson writes.

"When my research coordinator came in and said, 'I just got off the phone with the referring hospital and the father is in the ICU with severe respiratory failure and they don't know what the cause is' — boy, that's one of those moments that you won't forget," Lifton says.

The dad, Erik Drewniak, had had a number of very high fevers throughout his life, though they usually resolved themselves. This bit of family history, Johnson says, was overlooked because of the infant's additional gastrointestinal difficulties.

"Whenever I got sick, I went to the doctor — another fever, whatever," Drewniak tells the Globe. "We never thought of it as being something bigger, like a syndrome or a disease."

For this fever, which put Drewniak into a coma, his doctors began treating him with autoimmune drugs based on the genomic findings and brought his fever down.