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Whom should I refer to the NIH study?

We are interested in seeing patients with the conditions listed above, or patients who are older than 1 month and who have evidence of autoinflammatory disease (such as persistently elevated CRP). We accept patients from around the world. We are especially interested in patients with multiple affected family members, giving a stronger indication of genetic disease; however, we will also consider individual patients.

I have a patient with an interesting genetic variant. Whom should I contact?

Genetic discoveries happen when we can find multiple patients with the same symptoms and genetic variants. Our team is always excited to collaborate on new genetic discoveries. We can search our database of clinical and genetic data to see if we have a match. We may also be able to conduct functional studies in our lab to evaluate novel findings. Please reach out to Natalie Deuitch and/or Ivona Aksentijevich if you would like to further discuss research opportunities.

Last updated: July 9, 2021