HA20, an autoinflammatory disease similar to BD

[jzeis]

Hi there,

I just got a post from another BD group about a newly-identified autoinflammatory disease called HA20. It has a LOT of symptoms that are just like BD, it usually starts in childhood (and kids have often been misdiagnosed with BD), and it can run in some families. There's actually a gene that you can test for (TNFAIP3) to identify if you or your child has it. There's VERY limited information on it since it was just identified, but here's what I've got so far:

autoinflammatory-search.org...

(This web page also has a link to order genetic testing for HA20)

FOR DOCTORS (they'll have full access to these articles):

acrabstracts.org/abstract/h...

("HA20: A Novel Autoinflammatory Disease Caused By Haploinsufficiency of A20, Encoded By TNFAIP3")

ncbi.nlm.nih.gov/pubmed/273...

("Old dog new tricks: Monogenic autoinflammatory disease unleashed")

Hope this helps.

[ColdNoodleSoup]

Interesting! What are the symptoms and differences? I admit I had a bit of a hard time combing through those abstracts. I like to think I’m smart but I get put in my place sometimes

[elk1]

My son was just diagnosed through the WES genetic testing with TNFAIP3. He does not get as many mouth ulcers but his father used to get them. I remember his father would have huge ones over his uvula and back of throat. My son has had recurrent fevers since he was 2. Some canker sores but mainly fevers, stomach pain and vomiting. His inflammatory levels are super high during a fare as well. My son’s fevers used to be so high 105-106 at times but since we had tonsils and adenoids out the fevers do not seem to go as high but still 103-104. His flares are very unpredictable and often it seems prednisone given right at onset of fever can stop his flare from getting out of control were he can’t eat/drink. We’ve had several hospitalizations because his stomach pain can get bad where he doesn’t want to eat and drink.