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Researchers test new method to uncover immune disorders at Rochester General

S. Shahzad Mustafa led a team of researchers who studied the effectiveness of screening pneumonia patients for immune system disorders.

More than half a million people in the United States have an immune system disorder,according to the National Institutes of Health – but many of them are undiagnosed.

The average delay in catching those disordersismeasured in years, and in the meantime, people get sick. Some die.


Now, anew approach to detecting immunodeficiencies has been tested at Rochester General Hospital.


When patients were admitted to the hospital for pneumonia treatment, researchers also tested their blood for markers of immune disorders.


“Depending on the test results, it might signal an underlying problem,” said primary investigator S. Shahzad Mustafa.


In other words, the pneumonia might be a window into a much bigger health issue.


Physicians are prone to treating the acute infection – fluid in the lungs – rather than checking for an underlying cause, Mustafa said. When a doctor does recognize an immune system disorder, sometimes it can be too late.

“When we make the diagnosis – when we talk to them – they’ve been having infections for years,” Mustafa said.


Mustafa’s research team tested 100 consecutive patients who were admitted to the hospital with pneumonia from February to April 2017. Of those, almost a third had abnormal results, he said.


Over time, though, as their bodies fought off the infection, test results in all but five of the patients under study returned to normal, Mustafa said. Five in 100 might not sound like much, but “that ratio is significant,” Mustafa said. It’s higher than in many other tests commonly used to screen for immune system disorders.


In one of the patients, the researchers detected a case of a deadly blood cancer that had not yet been caught.


Mustafa acknowledged that the study is small, but he said its results point to a need for further research.


“Generally what this tells us, is there are people walking around town with undiagnosed abnormalities of their immune system,” Mustafa said. “They’re being treated for their infections with antibiotics, but no one’s actually thinking, ‘Is this bad luck, or is there something more going on?’”

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