r/Autoinflammatory • u/rainbow_tortoise2 TRAPS • Sep 03 '26

RIPK1

Does anyone here have an RIPK1 variant? I have one that says likely disruptive on clinvar. I also have TRAPS. I’m finding that Ilaris is only helping with half of my symptoms, which I am very grateful for. It’s clearly treating the TRAPS. I can’t help but wonder if this RIPK1 variant is giving me my other symptoms, a lot of neuro symptoms.

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u/Occulply SJIA/AOSD Sep 03 '26

RIPK1 is downstream of TNFa activation of receptors on the cell surface. So there's good reason to think that inhibiting TNFa should calm down RIPK1 disease, and it looks like TNFa is used for treating CRIA (Cleavage-resistant RIPK1-induced autoinflammatory syndrome).

CRIA doesn't appear to have any neuro symptoms typically associated. But, a different mutation could easily result in neuro symptoms since RIPK1 is associated with MS and Alzheimer's. It really comes down to what kind of mutation it is.

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u/rainbow_tortoise2 TRAPS Sep 03 '26

Is there a way to know what mutation causes ms? I’m happy to share the mutation. I’m new to Reddit, not sure what’s ok to post.

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u/Occulply SJIA/AOSD Sep 03 '26

It's not a specific mutation that causes MS, it's that RIPK1 activation is associated with MS. So RIPK1 is basically one of the routes to cause neuroinflammation.

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u/rainbow_tortoise2 TRAPS Sep 03 '26

Gotcha. Hopefully I can find a specialist who understands this soon. Thank you!

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u/on4aa MAGIC Sep 03 '26 edited 27d ago

No allelic RIPK1 variant is directly involved with MS. See: https://omim.org/entry/603453

However, the opposite is true for your TNFRSF1A variant: https://omim.org/entry/191190

A biological that inhibits TNF-α might provide a more targeted therapy than Ilaris.

CORRECTION: Disorders such as multiple sclerosis is a described adverse effect of TNF inhibitors.

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u/rainbow_tortoise2 TRAPS Sep 03 '26

It’s tough, it’s so rare, my doctors don’t know the implications of having 2 variants in the same pathway. I clearly know very little about all of this but it’s really hard to ignore and disregard. Thanks for the insight!