@alexandrebelot.bsky.social
MD, PhD, professor of pediatric rheumatology & immunology
Does anyone have serum/plasma from a cohort of (ambulatory) patients with herpes zoster (shingles) ? A small cohort would be fine. We will test if they have auto-Abs against type I IFNs, as the risk of zoster increases over 50 yo. Please RT or contact me !
When pediatric lupus behaves like a Mendelian disease: #Monogeniclupus, @hcl-recherche.bsky.social @ciri-lyon.bsky.social, @frl-lab.bsky.social Important implications for personalized care👇 WES enables molecular diag in 10% of pediatric SLE cases eBioMedicine www.thelancet.com/journals/ebi...
Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases
This study expands our understanding of causes of lupus, highlighting its genetic heterogeneity. It also supports the systematic use of genetic testing in cases of juvenile lupus, especially those wit...
thelancet.com
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/...
Novel TLR7 gain-of-function variant and review of the associated disease spectrum | Journal of Human Immunity | Rockefeller University Press
This study identifies a novel TLR7 variant causing monogenic lupus, recurrent infections, and neuroinflammation. The phenotype resembles type I interferono
rupress.org
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/...
Shared TCR Vβ21.3+ T cell immunological signature between MIS-A and MIS-C | Journal of Human Immunity | Rockefeller University Press
The immune dysregulation in SARS-CoV-2–related multisystem inflammatory syndrome in adults (MIS-A) is not fully characterized. In this work, Khoryati et al
rupress.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 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/...
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
The Lancet Rheumatology@thelancetrheum.bsky.social · 2y agoNEW RESEARCH—Clinical manifestations, disease penetrance, and treatment in individuals with #SOCS1 insufficiency: a registry-based and population-based study bit.ly/3QKo0qx #RareDiseaseDay #Medsky #Rheumsky @alexandrebelot.bsky.social @institutimagine.bsky.social
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
Description
Please note that job descriptions are not exhaustive, and you may be asked to take on additional duties that align with the key responsibilities ment...
rb.gy
I agree, this is a drama for the whole scientific community.
Petter Brodin@petterbrodin.bsky.social · 2y agoEven though some non-US scientist might see these massive cuts imposed on our US colleagues as an opportunity to get ahead, I do not. This decision will be negative for all of us as scientists…we all depend on each other and advance together…
📣 À vos agendas ! N’hésitez pas à vous inscrire www.eventbrite.com/e/mip-2025-t...
MIP 2025
12ème Journée de Médecine Interne Pédiatrique et 7ème journée du CRMR RAISE
eventbrite.com
Marie-Louise Frémond@mlfremond.bsky.social · 2y agoÀ vos agendas - programme disponible 📣 La 12 ème Journée de Médecine Interne Pédiatrique - 7 ème Journée du CRMR RAISE aura lieu le : 🗓 Vendredi 18 avril 2025 Format mixte : en présence à l’Institut Imagine + en ligne Inscription gratuite 👉 www.eventbrite.com/e/mip-2025-t...
Fascinating work by @bogunoviclab.bsky.social and colleagues, new perpectives for penetrance / expressivity analyses of monogenic diseases. 👏🎊
Bogunovic Lab@bogunoviclab.bsky.social · 2y agoWhat Happens When Some Cells Are More Dad Than Mom (and Vice Versa)? Latest from us. Published today. News here www.cuimc.columbia.edu/news/what-ha... article here: www.nature.com/articles/s41... @stewart_ojay @BogunovicLab and a huge international team thank you 🙏🏼
🩵 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...
Emmanuel Macron annonce la création d’un haut-commissariat à l’enfance en janvier
En France, un enfant sur cinq vit sous le seuil de pauvreté, et 160 000 sont victimes de violences sexuelles chaque année, selon la Dynamique pour les droits des enfants, qui porte la voix d’associati...
lemonde.fr
#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
Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus - Nature Reviews Rheumatology
This Review provides a comprehensive update on dysregulated type I interferon production and signalling in autoinflammatory interferonopathies, monogenic systemic lupus erythematosus and conditio...
bit.ly
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.
