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RACC UK

@raccuk.bsky.social

11 followers 30 following 18 posts

Launched in 2019, RACC-UK is a registered charity with a mission to improve the lives of those living with a Rare Autoinflammatory Condition.

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RACC UK @raccuk.bsky.social · 19d

How you and your local care team can prepare for referral acceptance to the Fever Clinic, National Amyloidosis Centre in London #autoinflammatoryaware #referrals #medicalevidence #medicalhistory

RACC UK @raccuk.bsky.social · Sep 10

The Importance of Research and Awareness
Increased awareness can lead to earlier diagnosis, more effective treatments, and improved patient outcomes #research #genetics #autoinflammatoryaware

RACC UK @raccuk.bsky.social · Sep 10

Diagnosis
Diagnosis typically involves a combination of clinical evaluation, family history, and genetic testing to identify specific mutations associated with the disorder #diagnosing #genetics

RACC UK @raccuk.bsky.social · Sep 10

Treatment approaches
These therapies, referred to as Interleukin-1 blockers, help prevent the consequential damage to the body's tissues, offering relief and improved quality of life for individuals with these disorders #treatment #qualityoflife

RACC UK @raccuk.bsky.social · Sep 9

Role of Cytokines
Cytokines play a significant role in the body's immune responses, particularly in inflammation and infection control. #cytokines

RACC UK @raccuk.bsky.social · Sep 9

Understanding Autoinflammatory Conditions
Autoinflammatory conditions represent a group of disorders characterized by seemingly unprovoked inflammation caused by the innate immune system.#autoinflammatoryaware

RACC UK @raccuk.bsky.social · Sep 9

Lets help to create a better understanding of Autoinflammatory conditions, roles of cytokines, treatment approaches, symptoms and diagnosis, the importance of research and awareness #autoinflammatoryaware #treatment #research #diagnosis #cytokines

RACC UK @raccuk.bsky.social · Sep 6

📣 Join us over on Youtube 📣

Rachel is going live with Darth Pyrin aka Chris Walker in 15 minutes!

www.youtube.com/live/PNcF-5E...

#AutoinflammatoryAware #MevalonateKinaseDeficiency 💚 🩷 💙

MKD Day - Rachel Checks in - World Autoinflammatory Awareness Month

Please donate - https://www.gofundme.com/f/support-world-autoinflammatory-awareness-month-2025

www.youtube.com

RACC UK @raccuk.bsky.social · Sep 6

📣 Shining a spotlight on Jack Drda 📣

Research interest is immunometabolism, with an emphasis on hepatic cholesterol biosynthesis and isoprenoid metabolites in rare autoinflammatory disorders, such as MKD and the newly described PMVK
#research #immunometablism 💚 🩷 💙

RACC UK @raccuk.bsky.social · Sep 6

#MevalonateKinaseDeficiency #Immunometabolism #AutoinflammatoryAware

📣 New Publication📣

Mevalonate Kinase Deficiency Information Booklet (A4)

www.canva.com/design/DAGx8...

RACC UK @raccuk.bsky.social · Sep 6

Jack Drda, Rami Ballout MD, Lyna-Nour Hamidi MD MSc, Sylvain Lanthier MD, Ezgi D Batu MD MSc, Robert D Steiner MD FAAP FACMG. Mevalonate kinase deficiency. In: Lewis SL, Editor-in-Chief. MedLink Neurology. San Diego: MedLink, LLC. Available at www.medlink.com. Update 2025

RACC UK @raccuk.bsky.social · Sep 6

Saturday 6th September 2025 at 9pm (GMT)
Join us over on YouTube to find out more about Rachel's journey of MKD and Advocacy.
#mevalonatekinasedeficiency #autoinflammatoryaware #research #genetics
💚 🩷 💙
www.youtube.com/@DarthPyrin/...

RACC UK @raccuk.bsky.social · Sep 5

We need worldwide patients registries to help inform research and a better understanding of these conditions, globally. #AutoinflammatoryAware #patientregistries #prevalence

RACC UK @raccuk.bsky.social · Sep 4

Here in the UK, only 24 genes are tested on the NHS. However, there are around 49 genes discovered that are associated to Autoinflammatory conditions. The genes identified can be found on the European Patient Registry, Infevers: infevers.umai-montpellier.fr/web/index.php
#AutoinflammatoryAware 💚🩷💙

RACC UK @raccuk.bsky.social · Sep 3

Saturday 6th September 2025 at 3pm (GMT)
Join us over on YouTube to find out more about Rachel's journey of MKD and Advocacy.
#mevalonatekinasedeficiency #autoinflammatoryaware #research #genetics
💚 🩷 💙
www.youtube.com/@DarthPyrin/...

RACC UK @raccuk.bsky.social · Apr 7

April is Stress Awareness Month 2025
Support Self-Love: Take time for self-care and show yourself the same kindness you offer to others.
#LeadWithLove

Reposted by RACC UK

Scott Amyx @scottamyx.bsky.social · Mar 12

Controlling cell acidity could be key to autoimmune disease treatment

ArfGAP2 promotes STING proton channel activity, cytokine transit, and autoinflammation

www.cell.com/cell/abstrac...

ArfGAP2 promotes STING proton channel activity, cytokine transit, and autoinflammation

ArfGAP2 is a dual regulator of STING signaling and proton efflux in specific cell types, with STING proton channel activity regulating Golgi transit and secretion of cytokines. Autoinflammatory diseas...

Reposted by RACC UK

TRAstonDrs @castltrastondrs.bsky.social · Mar 13

#Medsky🧪 #immunosky Patients with an IEI often show a complete penetrance of their disease-causing mutation, whereas other forms of IEI show a family pattern where many family members carrying the same mutation remain unaffected.The underlying mechanism, differential allele-specific expression

Monoallelic expression in human immune cells: linking genotype to phenotype

Patients with an inborn error of immunity (IEI) often show a complete penetrance of their disease-causing mutation, whereas other forms of IEI show a family pattern where many family members carrying ...

Reposted by RACC UK

Alexandru Stieber @alexstieber.bsky.social · Mar 20

Small case series that highlights lupus tumidus as a new ddx for skin lesions of #VEXASsyndrome!!

*p.Met41Leu mutations are frequently associated with significant dermatological manifestations and mild systemic involvement
#autoinflammatory #medsky #dermsky

www.jaadcasereports.org/article/S235...

VEXAS syndrome with p.Met41Leu UBA1 gene mutation misdiagnosed as tumid lupus: A series of 3 cases

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a newly characterized late-onset systemic inflammatory syndrome with cutaneous findings and multiorgan system involvement.1...

www.jaadcasereports.org

Reposted by RACC UK

TRAstonDrs @castltrastondrs.bsky.social · Mar 21

#Medsky🧪 #Immunosky #Autoinflammatorydiseases (AIDs) are characterized by dysregulation of #innateimmunity, leading to systemic inflammation. Familial Mediterranean fever (FMF) is the most common AID, associated with variants in exon 10 of MEFV

New Diseases Linked to MEFV Variants or Pyrinopathies

Autoinflammatory diseases (AIDs) are characterized by dysregulation of innate immunity, leading to systemic inflammation. Familial Mediterranean fever (FMF) is the most common AID, associated with var...

www.jaci-inpractice.org

Reposted by RACC UK

PennMedCSO @pennmedcso.bsky.social · Mar 24

New research out in @cellpress.bsky.social finds that ArfGAP2 promotes STING proton channel activity, cytokine transit & autoinflammation ft. @minerlab.bsky.social (@pennrheum.bsky.social/ @PennMicro) tinyurl.com/ycxf6stn

Reposted by RACC UK

Casanova Lab @casanovalab.bsky.social · Mar 25

1/ Our next stellar lab alumnus is @jonathanbohlen.bsky.social - a molecular biologist and a postdoc in our Paris lab from 2021-24 who is now a research group leader at the Gene Center at @lmumuenchen.bsky.social
www.genzentrum.uni-muenchen.de/index.html

Reposted by RACC UK

Alexandru Stieber @alexstieber.bsky.social · Mar 24

Amazing overview of actinopathies by @philippe-mertz.bsky.social, Hentgen Veronique, Guilaine Boursier, Jérôme Delon and @sophiegeorgin.bsky.social, highlighting their increasingly relevant #autoinflammatory phenotypes.

#medsky #rheumsky #pedsky

⬇️⬇️
www.sciencedirect.com/science/arti...

Current landscape of monogenic autoinflammatory actinopathies: A literature review

Autoinflammatory diseases (AID) are conditions leading to a hyperactivation of innate immunity without any underlying infection, and may be poly- (e.g…

www.sciencedirect.com

Reposted by RACC UK

RRID Robot @rridrobot.bsky.social · Mar 29

RRID:AB_867494 was used by the authors of the The Journal of Immunology paper "C/EBPδ Mediates Immunity to Renal Autoinflammatory Disorders in a Stage-specific Manner". We appreciate the author's support of reproducibility. #reproducibility #STMpublishing

Reposted by RACC UK

Waggoner Lab @labwaggoner.bsky.social · Apr 2

CELF2 suppresses endogenous RNA ligands, which could otherwise activate RIG-I to drive IFN-induced autoinflammation @ramlabuw.bsky.social
www.biorxiv.org/content/10.1...