RACC UK
@raccuk.bsky.social
Launched in 2019, RACC-UK is a registered charity with a mission to improve the lives of those living with a Rare Autoinflammatory Condition.
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
September 29, 2025 at 3:53 PM
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
The Importance of Research and Awareness
Increased awareness can lead to earlier diagnosis, more effective treatments, and improved patient outcomes #research #genetics #autoinflammatoryaware
Increased awareness can lead to earlier diagnosis, more effective treatments, and improved patient outcomes #research #genetics #autoinflammatoryaware
September 10, 2025 at 6:01 PM
The Importance of Research and Awareness
Increased awareness can lead to earlier diagnosis, more effective treatments, and improved patient outcomes #research #genetics #autoinflammatoryaware
Increased awareness can lead to earlier diagnosis, more effective treatments, and improved patient outcomes #research #genetics #autoinflammatoryaware
Diagnosis
Diagnosis typically involves a combination of clinical evaluation, family history, and genetic testing to identify specific mutations associated with the disorder #diagnosing #genetics
Diagnosis typically involves a combination of clinical evaluation, family history, and genetic testing to identify specific mutations associated with the disorder #diagnosing #genetics
September 10, 2025 at 2:03 PM
Diagnosis
Diagnosis typically involves a combination of clinical evaluation, family history, and genetic testing to identify specific mutations associated with the disorder #diagnosing #genetics
Diagnosis typically involves a combination of clinical evaluation, family history, and genetic testing to identify specific mutations associated with the disorder #diagnosing #genetics
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
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
September 10, 2025 at 10:01 AM
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
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
Role of Cytokines
Cytokines play a significant role in the body's immune responses, particularly in inflammation and infection control. #cytokines
Cytokines play a significant role in the body's immune responses, particularly in inflammation and infection control. #cytokines
September 9, 2025 at 6:30 PM
Role of Cytokines
Cytokines play a significant role in the body's immune responses, particularly in inflammation and infection control. #cytokines
Cytokines play a significant role in the body's immune responses, particularly in inflammation and infection control. #cytokines
Understanding Autoinflammatory Conditions
Autoinflammatory conditions represent a group of disorders characterized by seemingly unprovoked inflammation caused by the innate immune system.#autoinflammatoryaware
Autoinflammatory conditions represent a group of disorders characterized by seemingly unprovoked inflammation caused by the innate immune system.#autoinflammatoryaware
September 9, 2025 at 6:01 PM
Understanding Autoinflammatory Conditions
Autoinflammatory conditions represent a group of disorders characterized by seemingly unprovoked inflammation caused by the innate immune system.#autoinflammatoryaware
Autoinflammatory conditions represent a group of disorders characterized by seemingly unprovoked inflammation caused by the innate immune system.#autoinflammatoryaware
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
September 9, 2025 at 3:53 PM
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
📣 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 💚 🩷 💙
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
September 6, 2025 at 7:45 PM
📣 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 💚 🩷 💙
Rachel is going live with Darth Pyrin aka Chris Walker in 15 minutes!
www.youtube.com/live/PNcF-5E...
#AutoinflammatoryAware #MevalonateKinaseDeficiency 💚 🩷 💙
📣 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 💚 🩷 💙
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 💚 🩷 💙
September 6, 2025 at 7:00 PM
📣 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 💚 🩷 💙
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 💚 🩷 💙
#MevalonateKinaseDeficiency #Immunometabolism #AutoinflammatoryAware
📣 New Publication📣
Mevalonate Kinase Deficiency Information Booklet (A4)
www.canva.com/design/DAGx8...
📣 New Publication📣
Mevalonate Kinase Deficiency Information Booklet (A4)
www.canva.com/design/DAGx8...
September 6, 2025 at 4:55 PM
#MevalonateKinaseDeficiency #Immunometabolism #AutoinflammatoryAware
📣 New Publication📣
Mevalonate Kinase Deficiency Information Booklet (A4)
www.canva.com/design/DAGx8...
📣 New Publication📣
Mevalonate Kinase Deficiency Information Booklet (A4)
www.canva.com/design/DAGx8...
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
September 6, 2025 at 3:53 PM
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
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/...
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/...
September 6, 2025 at 3:53 PM
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/...
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/...
We need worldwide patients registries to help inform research and a better understanding of these conditions, globally. #AutoinflammatoryAware #patientregistries #prevalence
September 5, 2025 at 1:02 PM
We need worldwide patients registries to help inform research and a better understanding of these conditions, globally. #AutoinflammatoryAware #patientregistries #prevalence
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 💚🩷💙
#AutoinflammatoryAware 💚🩷💙
September 4, 2025 at 9:32 AM
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 💚🩷💙
#AutoinflammatoryAware 💚🩷💙
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/...
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/...
September 3, 2025 at 3:53 PM
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/...
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/...
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
Support Self-Love: Take time for self-care and show yourself the same kindness you offer to others.
#LeadWithLove
April 7, 2025 at 9:32 AM
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
Support Self-Love: Take time for self-care and show yourself the same kindness you offer to others.
#LeadWithLove
Reposted by RACC UK
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
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...
www.cell.com
March 12, 2025 at 4:14 PM
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
www.cell.com/cell/abstrac...
Reposted by RACC UK
#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 ...
www.cell.com
March 13, 2025 at 7:32 AM
#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
Reposted by RACC UK
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...
*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
March 20, 2025 at 6:39 PM
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...
*p.Met41Leu mutations are frequently associated with significant dermatological manifestations and mild systemic involvement
#autoinflammatory #medsky #dermsky
www.jaadcasereports.org/article/S235...
Reposted by RACC UK
#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
March 21, 2025 at 7:07 PM
#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
Reposted by RACC UK
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
March 24, 2025 at 12:21 PM
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
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
www.genzentrum.uni-muenchen.de/index.html
March 25, 2025 at 3:26 PM
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
www.genzentrum.uni-muenchen.de/index.html
Reposted by RACC UK
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...
#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
March 24, 2025 at 5:48 PM
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...
#medsky #rheumsky #pedsky
⬇️⬇️
www.sciencedirect.com/science/arti...
Reposted by RACC UK
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
doi.org
March 29, 2025 at 7:00 AM
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
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...
www.biorxiv.org/content/10.1...
April 2, 2025 at 2:01 AM
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...
www.biorxiv.org/content/10.1...