ALPK1

By the time Dr. Kozicki met Brendan and Keegan, she had a hunch about what might be causing their illness.

The answers to these decades of questions may lie inside a human gene called ALPK1.

So I joined a very prominent auto-inflammatory group here at the NH in 2019.

And at the time, it was just revealed that ALPK1 was an innate immune sensor, that it was one of our ways to detect pieces of bacteria that float around.

At the same time, a group of clinicians noted that they had five families who had this very rare mutation in ALPK1, same mutation in everyone, and had this unusual phenotype with blindness.

And so our group hypothesized that could be an autoinflammatory disease doing that.

We got a call and they said, we want to introduce you to the folks down at the NIH that are interested in your case.

The mutation in ALPK1 that Dr. Kozicki was observing from other patients seemed to match Brendan and Keegan's symptoms exactly.