Another superb study of human TLR7 GOF: Novel TLR7 gain-of-function variant and review of the associated disease spectrum url: rupress.org/jhi/article/...

New from Tusseau, Desvignes, Belot et al. @ciri-lyon.bsky.social: Novel TLR7 GOF variant (P435S) causing early onset #lupus with #neuroinflammation. Functional validation & review of all known #TLR7 GOF cases. A new dive into TLR7 mediated #autoimmunity. rupress.org/jhi/article/... #InnateImmunity

A fascinating report, unifying MIS-C and MIS-A: Shared TCR Vβ21.3+ T cell immunological signature between MIS-A and MIS-C url: rupress.org/jhi/article/...

Khoryati et al. identify a T cell receptor Vβ21.3 signature in #SARSCoV2–related multisystem inflammatory syndrome in adults (MIS-A) similar to that previously reported in children (MIS-C), suggesting a shared immune-related mechanism between the two conditions. rupress.org/jhi/article/...

In @jhumimmunity.org: Khoryati et al. identify a T cell receptor Vβ21.3 signature in #SARSCoV2–related multisystem inflammatory syndrome in adults (MIS-A) similar to that previously reported in children (MIS-C), suggesting a shared immune-related mechanism between the two rupress.org/jhi/article/...

Congratulations to Dr Eve Smith for EULAR abstract award-Clinical Science for our collaboration in childhood-onset #lupus! Thankful to FOREUM-RRF for funding this exciting international collaboration to advance clinical research for cSLE! More great things ahead! #EULAR25 #lupus 👏🏽👏🏽👏🏽🩺🔬💻

Human #InbornErrorsOfImmunity: 2024 update on the classification from the @iuis-online.bsky.social Expert Committee: rupress.org/jhi/article/... See also the accompanying diagnostic guide by Bousfiha et al.: rupress.org/jhi/article/...

The first JHI articles are online! Poli et al present the 2024 update of the @iuis-online.bsky.social classification of #InbornErrorsOfImmunity (rupress.org/jhi/article/...) & Bousfiha et al provide an accompanying phenotypic classification to assist clinical diagnoses (rupress.org/jhi/article/...)

Nice overview of SOCS1 HA, a recently identified JAK-STATopathy with many phenotypes

Review explores the impact of rare genetic variants on the understanding and treatment of autoimmune and autoinflammatory diseases, with a focus on systemic lupus erythematosus and Behçet syndrome In ACR Open Rheumatology doi.org/10.1002/acr2... #Medsky

*******JOB ALERT********* Join our team as a Postdoc or Research Assistant investigating the genetic basis of life-threatening infections in children @imperialcollege . Apply now 🔗 rb.gy/1c6b3n #ScienceJobs #Postdoc #Immunology #IEI #Humangenetics @imperialinfect.bsky.social

I agree, this is a drama for the whole scientific community.

📣 À vos agendas ! N’hésitez pas à vous inscrire www.eventbrite.com/e/mip-2025-t...

Bravo Petter and coll, well done!

Fascinating work by @bogunoviclab.bsky.social and colleagues, new perpectives for penetrance / expressivity analyses of monogenic diseases. 👏🎊

🩵 MERCI aux équipes de nuit qui assurent la continuité des soins, même le 31 déc. : urgences, bloc, maternité, usld, imagerie médicale, laboratoire, maintenance, transport, restauration, nettoyage, accueil, sécurité, équipes mobiles ou de garde... #TeamHCL #HôpitalPublic 📸 O. Ruffini BellecourEcole

Il y a deux ans nous avions sonné l'alarme auprès du PR, des Assises de la pédiatrie étaient lancées. De nombreux professionnels se sont concertés et on fait des propositions en mai 2024. Qu'en a-t-on retenu ? Après les paroles et les promesses, l'action s'impose. www.lemonde.fr/societe/arti...

#JanuaryIssue | Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus Goldbach-Mansky and colleagues propose a pathogenesis-based classification of #autoinflammatory interferonopathies in this #Review bit.ly/4gLCpOx

Fantastic Rheumatopedies Meeting 2024 with many talented researchers, including our guest speakers Filomeen Haerynck and Dan Kastner. Thank you for coming and sharing your enthusiasm for genomics and immunology.