Studying monocytes and cells from patients with mevalonate kinase deficiency, a team finds that glucose and oxygen deprivation activate the #NLRP3 #inflammasome by inhibiting HMG-Coa CoA reductase and disrupting the #prenylation of Rac1. UNIVERSITÄT LEIPZIG scim.ag/7P4

We have received a lovely gift from the US today! All the way from Pittsburgh. Thank you Jack C. Drda (He/Him) 💙💜 #mevalonatekinasedeficiency

It’s Mevalonate Kinase Deficiency Awareness Day! #autoinflammatory #mkd #immunometabolism #genetics #raredisease

Using genome sequencing to identify cryptic second variants in recessive genetic conditions. nature.com/articles/s4143…

🎙️ Episode 2 of our Podcast Series "Autoinflammation Decoded & Beyond" is Now Live! 🎉 Our host Ellen interviews Sharon Kensell—Founder & Chair of the FMF & AID Australian Association. Spotify: spotifyanchor-web.app.link/e/NwwXaYV0gOb YouTube: youtu.be/tI5LyVkFLkE

I am pleased to share the early view of our article on genetic landscape of Still's disease. Its taken a while to get this published, but we finally got there with support from ImmunAID_EU and The Kennedy Trust for Rheumatology Research acrjournals.onlinelibrary.wiley.com/doi/10.1002/ar…

Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations SYSTEMATIC REVIEW article Front. Immunol., 12 November 2024 Sec. Autoimmune and Autoinflammatory Disorders: Autoinflammatory Disorders Volume 15 - 2024 | doi.org/10.3389/fimmu.…

Congratulations to Prof Mike Rogers who has secured an NFMRI grant for his vital research on mevalonate kinase deficiency (MKD). This rare but severe childhood disease causes recurring fevers, joint pain and gut inflammation that can be devastating for young patients.

nfmri.org.au/research-and-i…

We love this news so much 💜💙🩵💚

Tough one! What is this syndrome?

Intrauterine intestinal obstruction in a preterm infant with severe mevalonate kinase deficiency – a case report rdcu.be/ecrbf #MKD #Autoinflammatory