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Daniela Schwartz

Daniela Schwartz

Assistant Professor of Medicine and Immunology at University of Pittsburgh specializing in autoinflammatory diseases and inborn errors of immunity, particularly Haploinsufficiency of A20.

Jul 14, 2026

16:29
Right
16:29
... pathogenic.
16:30
So that kind of thing you can have a very high confidence is pathogenic.
16:34
Then we get into that wild and wonderful world of missense variants.
16:39
So a missense variant is where only one amino acid is changed.
16:42
The way I explain it to patients is that you could have the word C, like I went to the sea to sail a boat, and maybe one spelling error changes that A to an E, so it says, "I went to the sea to sail a boat," but you can still kind of figure out what the meaning is.
16:56
It's good enough.

12 MINS LATER

28:42
Are there some mistakes that you see rheumatologists do in the care of patients with HA twenty?

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