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Discovery of CGD

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I went to the University of Minnesota to do an infectious disease fellowship with Dr. Paul Quie. Dr. Quie was a noted infectious disease specialist, who had devised a system where he drew blood from normal individuals. He separated the white cells. Then he put Staph\, or he put E coli, into these test tubes. Your and my cells, which are normal, would basically kill 99.9% of a hundred-thousand bacterial inoculum.

This surgeon had brought down a sample, a blood sample, on a little patient who kept having lymphadenitis infection in the lymph nodes. And Dr. Quie put it into his system and, lo and behold, after 90 minutes, the bacteria were literally growing in the white blood cells.

Slate: What Dr. Quie discovered was a rare genetic disease known now as Chronic Granulomatous Disease (CGD)

From there, we went on to understand that there was a lack of a critical component.

It's a super-component that helps us kill bacteria. This enzyme in cells, called superoxide dismutase, affects that and it makes hydrogen peroxide. And it's a very potent and very good anti-bacterial agent.

There's another component that's made with another enzyme and the granules of the white blood cells, and it's called myeloperoxidase, and it takes chloride, which we have in all our cells throughout our body. And it takes it and it makes hypochlorite. That's Clorox. Clorox is a great way to wipe off things and to kill bacteria. So those are two of the main components, and they end up killing bacteria and fungi in your white blood cells, and you absolutely have to have them.

And these poor, little kids couldn't make them.

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