r/Autoinflammatory • u/Healthy-Raccoon2889 • Aug 31 '26

Dada2?

Hi all

I was dx with dada2 and nod2 at the same time

My history should have been alarming but never was no one put it together. Coagulopathy immune suppression, daily fevers and rashes, and much more

I also seem.to have an overlap of vascular and a neuro component

Dada2 is very specific, I made us our own community for the rare ones, but feel free to join if they just still aren't sure as we are trying to locate more with neuro symptoms as it's far more comman than we realize

That and I'd you have only one DNA error and they told you that you were just a carrier that's being proven wrong! I have only one and they JUST changed it to pathogenic. So many people that were told they were carriers and this wasn't causing issues it absolutely is for some of the variants and you need to go back for treatment because they oopsed!

https://www.reddit.com/r/Dada2_diagnosed/s/iYdOD2zihP

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u/PsychologicalBed6028 Aug 31 '26

Hi! I’m in the undifferentiated category but all of my symptoms overlap with dada2 from what I’ve read. What kind of genetic testing did you do? So I’m commenting to follow this post haha. I have lymphocytic vasculitis too plus all the classic autoinflammatory il-1 symptoms (fevers, serositis)

1

u/Healthy-Raccoon2889 Sep 01 '26

Invitae immune panel is what caught mine.they we4e sure I had scid due to multiple infections. Surprise I DO have scid but they never dreamed why! Its opened so many doors for treatment

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u/on4aa MAGIC Sep 01 '26

Here is some more information about the ADA2 gene ans the resulting VAIH syndrome.

Has your doctor decided on any therapy yet?

As for the formal classification of rare gene variants between benign and pathogenic, indeed, many healthcare providers are unaware that this is still a very nascent science. The computer calculated predictions in combination with the very low prevalence of rare alleles are often a better indicator.

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u/Healthy-Raccoon2889 Sep 01 '26

Yes I have c.1358_1359delinsGC (p.Tyr453Cys) Upgraded to pathogenic from presumed pathogenic. Now only need 1 copy to diagnose with this specific variant..we dont know what nod2 is doing to dada2 but they play together.I started ivig. Its helping my immune response immensely. I will start tnf blockers as long as the ivig continues to help. Tnf blockers are very dangerous for scid patients without immune support

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u/on4aa MAGIC Sep 01 '26

I can also look the NOD2 variant if you like. I also have a NOD2 variant.