Human TBK1 deficiency: An expanded spectrum from #autoinflammation to viral #encephalitis. New report from Yemsratch Akalu, Dusan Bogunovic @bogunoviclab.bsky.social @columbiamed.bsky.social and colleagues: rupress.org/jhi/article/...
#InbornErrorsOfImmunity
@clinimmsoc.bsky.social
In @jhumimmunity.org, Akalu et al. @bogunoviclab.bsky.social report new and long-term follow-up cases of human #TBK1 deficiency, revealing that, beyond systemic #autoinflammation, affected individuals are also vulnerable to severe viral #encephalitis. rupress.org/jhi/article/...
Akalu et al. @bogunoviclab.bsky.social @columbiamed.bsky.social report new and long-term follow-up cases of human #TBK1 deficiency, revealing that, beyond systemic #autoinflammation, affected individuals are also vulnerable to severe viral #encephalitis. rupress.org/jhi/article/...
#genetics #wholeexomesequencing #genepanel #autoinflammation #autoinflammatory #sequencing #geneticdiagnosis #immunodeficiency #medicalgenetics #inflammation
👏 Big applause for our scholarship winners as we wrap up #Autoimmunity & #Autoinflammation in Keystone! Proud to support the next generation of scientists through the Keystone Symposia Future of Science Fund. Learn more: keysym.us/scholarships...
@v-hornung.bsky.social #KeystoneSymposia
TLR7 F507S gain-of-function mutation presenting with early-onset #SLE and #hypertriglyceridemia: Response to JAK inhibition. New report from Nima Parvaneh, Vahid Ziaee and colleagues (Tehran University of Medical Sciences): rupress.org/jhi/article/...
#Autoinflammation #InbornErrorsOfImmunity
Pauline Bronnec, @cinflammasome.bsky.social et al. developed SpeckSeq, which classifies MEFV variants of uncertain significance to refine molecular diagnostics and improve our knowledge on the pyrin #inflammasome rupress.org/jem/article/...
#HumanDiseaseGenetics #Autoimmunity #Autoinflammation
SpeckSeq enables high-throughput functional stratification of MEFV variants in autoinflammatory diseases. New study from Pauline Bronnec, Flora Magnotti, Thomas Henry @cinflammasome.bsky.social @ciri-lyon.bsky.social and colleagues: rupress.org/jem/article/...
#Autoinflammation #Inflammasomes
In @jhumimmunity.org, Kilic, Zhao et al. report a child w/ a homozygous TBK1 mutation previously linked to #autoinflammation, suggesting its role in recurrent severe viral infections; the patient died from acute disseminated #encephalomyelitis. rupress.org/jhi/article/...
@casanovalab.bsky.social
Kilic, Zhao et al. report a child w/ a homozygous TBK1 mutation previously linked to #autoinflammation, suggesting its role in recurrent severe viral infections; the patient died from acute disseminated #encephalomyelitis. rupress.org/jhi/article/...
@casanovalab.bsky.social
@clinimmsoc.bsky.social
📣 Le Pr Marie-Elise Truchetet, membre de @resobordeaux.bsky.social , interviendra le 8 janv. 2026 à l’Institut Imagine (Necker), sur les régulateurs JAK-STAT dans les maladies auto-inflammatoires.
Plus d'infos 👉 : www.reso-bordeaux.fr/les-bobines-...
#Autoinflammation #Immunologie #maladiesrares
Hey #IEI and #autoinflammation enthusiasts!
"Celebrating Autoinflammation: On the Shoulders of a Giant"
Registration is free tarnnetwork.org/events/celeb...
But pls consider supporting: givebutter.com/c/autoinflam...
- via @autoinflammatory.bsky.social
@colllab.bsky.social et al. show that both BAL-0028 & BAL-0598 inhibit select hyperactive #NLRP3 mutations associated with #autoinflammation more potently than MCC950. BAL-0028 & BAL-0598 represent a new modality for NLRP3 inhibition in inflammatory diseases rupress.org/jem/article/...
#Inflammasome
Rheumatologic and autoimmune features of inborn errors of immunity: Implications for diagnosis and management. New review from Joshua Tobin and Megan Cooper @macattacklab.bsky.social @washumedicine.bsky.social: rupress.org/jhi/article/...
#Autoinflammation #InbornErrorsOfImmunity #Autoimmunity
Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I #interferonopathy. New review from Callie Wong, Tifenn Wauquier, Yanick Crow and colleagues @institutimagine.bsky.social @uoe-igc.bsky.social: rupress.org/jhi/article/...
#Autoinflammation
Gomez-Diaz, @v-hornung.bsky.social et al. show that RNase T2 restricts TLR13-mediated #autoinflammation in vivo. rupress.org/jem/article/...
📘 In JEM #Immunology Collection: rupress.org/jem/collecti...
#AAI2025
Primary disorders of polyubiquitination: Dual roles in #autoinflammation and #immunodeficiency. New Review from András Spaan, Bertrand Boisson, and Seth Masters (@sethlucianmasters.bsky.social): rupress.org/jem/article/...
Review in @jem.org: Spaan, Boisson, and @sethlucianmasters.bsky.social review the known primary disorders of the polyubiquitination pathways in humans that lead to #autoinflammation and/or #immunodeficiency rupress.org/jem/article/...
Review: Spaan, Boisson, and @sethlucianmasters.bsky.social review the known primary disorders of the polyubiquitination pathways in humans that lead to #autoinflammation and/or #immunodeficiency rupress.org/jem/article/...
Baldo, Di Domizio, Gilliet and colleagues show that #neutrophils produce IL-26 which drives #autoinflammation in pustular #psoriasis. https://buff.ly/4gGcozp
📘 In Host–Microbe Interactions 2025 👉 https://buff.ly/40XMv8r
Congratulations to @shouyafeng.bsky.social @sethlucianmasters.bsky.social and the entire team on our lab’s latest publication out now in @natimmunol.bsky.social!
#autoinflammation #autoinflammatory
Interesting read. I wonder if we see more Mtb infections or more severe/disseminated infections in patients with monogenic interferonopathies? Esp. from Mtb endemic regions? #autoinflammation #IDsky #immunosky
A starter pack for anyone interested in #autoinflammation and #autoinflammatory diseases.
Please let me know if you’d like to be added.
go.bsky.app/5M6obrp
Abstract
#MedSky🧪 #ImmunoSky Patients with inherited CBL mutation & somatic loss-of-heterozygosity are known to develop spontaneously resolving JMML and to suffer from #autoinflammation, particularly #vasculitis …
www.jci.org/articles/vie...
MedSky🧪#IDSky #ImmunoSky @NatureRevGenet Understanding what’s IEIs ? #Inbornerrorsofimmunity (IEIs) are generally considered to be rare monogenic disorders of the immune system that cause #immunodeficiency, #autoinflammation, #autoimmunity, allergy & /or #cancer.
