Frédéric Rieux-Laucat @frl-lab.bsky.social · 07/09/2026And surprise!! we found three deleterious heterozygous mutants of the AZI2 gene (which encodes the NAP1 protein) in three patients suffering from lupus or a severe interferonopathy (a disease linked to the uncontrolled production of type-1 interferon). 020
Frédéric Rieux-Laucat @frl-lab.bsky.social · 07/09/2026They asked us whether we had variants of this gene in our collection of over 2,000 exomes from patients with pediatric-onset autoimmunity. 110
Frédéric Rieux-Laucat @frl-lab.bsky.social · 07/09/2026This work perfectly illustrates the importance of high-level basic research in gaining a better understanding of a rare genetic disease. It is a prime example of reverse genetics. Yves Gaudin’s team had characterized the function of NAP1. 120
Frédéric Rieux-Laucat @frl-lab.bsky.social · 07/09/2026Congratulations to Damien Glon and Quentin Riller on this fruitful collaboration between Yves Gaudin's team @cnrs-paris-saclay.bsky.social and our team @institutimagine.bsky.social . www.nature.com/articles/s41...nature.comNAP1 switches from an activator to a limiter of interferon induction by trapping TBK1 in condensates - Nature CommunicationsTBK1 kinase is a key regulator of type I interferon production and upon activation the TBK1adaptor proteins are known to form liquid condensates. Here the authors show NAP1 is a rheostat, switching fr... 132
Reposted by Frédéric Rieux-Laucatalexandrebelot.bsky.social @alexandrebelot.bsky.social · 02/04/2026When 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...thelancet.comExome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus casesThis 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... 185
Reposted by Frédéric Rieux-LaucatEMBO Molecular Medicine @embomolmed.org · 28/10/2025Don’t miss ➡️ #InSilicoModeling guides identification of novel #JAK1 variants associated with #ImmuneDysregulation By M. Jeanpierre, O. Debeaupuis, M. Parlato, @frl-lab.bsky.social & colleagues @inserm.fr @institutimagine.bsky.social 🗞️ doi.org/10.1038/s443... 011
Frédéric Rieux-Laucat @frl-lab.bsky.social · 09/09/2025A great opportunity to do a PhD in a nice and motivating environment in the heart of Paris. Have a look at the 16 project proposals !! 010
Reposted by Frédéric Rieux-LaucatInstitut Imagine @institutimagine.bsky.social · 04/09/2025Open call for applications for the International PhD PPU-IMAGINE program! Don’t miss out on 16 different PhD research projects at Institut Imagine! Deadline: October 20, 2025 For more information: www.institutimagine.org/en/internati... 186
Reposted by Frédéric Rieux-LaucatQuentin Riller @quentinriller.bsky.social · 28/05/2025Congratulations @damien-glon.bsky.social ! Very happy to be involved in this study with @frl-lab.bsky.social ! 🔥 031
Reposted by Frédéric Rieux-LaucatDamien Glon @damien-glon.bsky.social · 28/05/2025🚨Proud to share the preprint from my postdoc in Yves Gaudin’s lab, in collab with Frédéric Rieux-Laucat’s lab. 🧠Our key finding? NAP1 plays a dual role in regulating innate immunity. 📌This work highlights how phase separation modulates antiviral responses and explains some interferonopathies. 🔗⬇️biorxiv.orgNAP1 switches from an activator to a limiter of interferon induction by trapping TBK1 in condensatesTBK1 kinase is a central regulator of type I IFN production. Upon activation of the IFN-β induction pathway, TBK1-adaptor proteins (NAP1, SINTBAD, TANK) form condensates with liquid properties. We sho... 061
Reposted by Frédéric Rieux-LaucatJournal of Experimental Medicine @jem.org · 11/04/2025@quentinriller.bsky.social, @frl-lab.bsky.social et al. present the first case of biallelic CHUK mutations disrupting IKKα kinase function, broadening the understanding of non-canonical NF-κB defects rupress.org/jem/article/... 📘 In Genes & Immunity collection: rupress.org/jem/collecti... #HKS2025 053
Reposted by Frédéric Rieux-LaucatQuentin Riller @quentinriller.bsky.social · 15/01/2025Thrilled to share our latest in @jem.org! 🚨 A single patient with syndromic immunodeficiency led us to uncover that biallelic point mutations in the IKKα kinase domain disrupt the non-canonical and partially the canonical NF-kB pathway activation. Dive into the details! 🧬 #NFkB #Immunology 193
Reposted by Frédéric Rieux-LaucatWaggoner Lab @labwaggoner.bsky.social · 15/01/2025Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans @jem.org @quentinriller.bsky.social @frl-lab.bsky.social doi.org/10.1084/jem.... 064
Frédéric Rieux-Laucat @frl-lab.bsky.social · 16/01/2025Congratulations Quentin!! it is so deserved for your outstanding PhD work. 020
Reposted by Frédéric Rieux-LaucatJournal of Experimental Medicine @jem.org · 15/01/2025Riller et al. @frl-lab.bsky.social @institutimagine.bsky.social show that IKKα kinase deficiency causes syndromic #immunodeficiency & immune dysregulation as a consequence of a major defect in the non-canonical NF-κB pathway and a partial defect in the canonical pathway. buff.ly/4gUZZZz 1105
Reposted by Frédéric Rieux-LaucatQuentin Riller @quentinriller.bsky.social · 15/01/2025This work was done in @institutimagine.bsky.social in the laboratory of @frl-lab.bsky.social with Bénédicte Neven and collaborators in France and Belgium @casanovalab.bsky.social @anne-puel.bsky.social Many thanks to all co-authors! 052
Frédéric Rieux-Laucat @frl-lab.bsky.social · 02/12/2024Everything you always wanted to know about TCR. An outstanding work. Congratulations 110
Reposted by Frédéric Rieux-LaucatPieter Meysman @pmeysman.bsky.social · 02/12/2024Our massive effort to recontextualize #single #T-cell data is now out in Science Advances! We developed a new system, STEGO, to do a TCR-first analysis, and reanalyzed 12 studies and more than 500 000 individual T-cells. Supported by @cziscience.bsky.social ! doi.org/10.1126/scia...doi.orgT cell receptor–centric perspective to multimodal single-cell data analysisT cell receptor–centric perspective improves single-cell analysis. 54916
Frédéric Rieux-Laucat @frl-lab.bsky.social · 02/12/2024Welcome Dusan !! Here the sky is blue and people are nice 😊. So happy to see you here. All the best. 110
Reposted by Frédéric Rieux-LaucatWaggoner Lab @labwaggoner.bsky.social · 19/11/2024Single-cell atlas of the human immune system reveals sex-specific dynamics of immunosenescence, including a female-specific cytotoxic CD8+ T cell subpopulation @martamele.bsky.social @mariasopenar.bsky.social papers.ssrn.com/sol3/papers.... 04418
Frédéric Rieux-Laucat @frl-lab.bsky.social · 19/11/2024I’d be delighted to be added. All the best 110
Frédéric Rieux-Laucat @frl-lab.bsky.social · 19/11/2024How can we better explain that vaccination is the unique way to protect our children? And as said a brillant French pediatrician, Pr Robert Debré, long ago, our children are our eternity…. 010
Reposted by Frédéric Rieux-LaucatBK. Titanji @boghuma.bsky.social · 18/11/202410.3 million cases of measles occurred worldwide last year, up 20% from 2022, primarily because of inadequate immunization coverage. The disease resulted in 107,500 deaths last year, mostly killing children under 5!!!! There are no upsides to shunning vaccines. www.washingtonpost.com/health/2024/...washingtonpost.comSurge in worldwide measles cases driven by lack of vaccine coverage, WHO saysThe WHO and CDC say there were about 10.3 million cases of measles last year, up 20 percent from 2022. Children are especially susceptible to complications. 27239
Reposted by Frédéric Rieux-LaucatPetter Brodin @petterbrodin.bsky.social · 17/11/2024Recent paper (Nature)-why are males more vulnerable to severe infections (ex acute #COVID), while females suffer more from autoimmunity (SLE, MS etc and also #LongCovid)? X/Y or hormones? We study adaptation of immune systems in gender-affirming testosterone treatment: nature.com/articles/s41...nature.comImmune system adaptation during gender-affirming testosterone treatment - NatureExamination of immunological changes in transgender individuals undergoing gender-affirming testosterone treatment reveals sex hormone-regulated pathways in humans and explains sex-divergent responses... 19610149