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Frédéric Rieux-Laucat

@frl-lab.bsky.social
679 followers 385 following 15 posts

The Immunogenetics of Pediatric Autoimmune Diseases Lab @institut Imagine (www.institutimagine.org/fr), focuses on Primary Immune Deficiencies and Dysregulations (PIDDs) #Autoimmunity #Immunology #Genetics #mutations (germline and/or somatic)

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Frédéric Rieux-Laucat @frl-lab.bsky.social · 07/09/2026
And 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).
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Frédéric Rieux-Laucat @frl-lab.bsky.social · 07/09/2026
They asked us whether we had variants of this gene in our collection of over 2,000 exomes from patients with pediatric-onset autoimmunity.
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Frédéric Rieux-Laucat @frl-lab.bsky.social · 07/09/2026
This 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.
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Frédéric Rieux-Laucat @frl-lab.bsky.social · 07/09/2026
Congratulations 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.com
NAP1 switches from an activator to a limiter of interferon induction by trapping TBK1 in condensates - Nature Communications
TBK1 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...
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Reposted by Frédéric Rieux-Laucat
alexandrebelot.bsky.social @alexandrebelot.bsky.social · 02/04/2026
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...
thelancet.com
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...
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Reposted by Frédéric Rieux-Laucat
EMBO Molecular Medicine @embomolmed.org · 28/10/2025
Don’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...
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Frédéric Rieux-Laucat @frl-lab.bsky.social · 09/09/2025
A 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 !!
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Institut Imagine @institutimagine.bsky.social · 04/09/2025
Open 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...
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Quentin Riller @quentinriller.bsky.social · 28/05/2025
Congratulations @damien-glon.bsky.social ! Very happy to be involved in this study with @frl-lab.bsky.social ! 🔥
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Damien 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.org
NAP1 switches from an activator to a limiter of interferon induction by trapping TBK1 in condensates
TBK1 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...
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Reposted by Frédéric Rieux-Laucat
Journal 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
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Quentin Riller @quentinriller.bsky.social · 15/01/2025
Thrilled 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
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Waggoner Lab @labwaggoner.bsky.social · 15/01/2025
Mutations 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....
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Frédéric Rieux-Laucat @frl-lab.bsky.social · 16/01/2025
Congratulations Quentin!! it is so deserved for your outstanding PhD work.
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Journal of Experimental Medicine @jem.org · 15/01/2025
Riller 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
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Quentin Riller @quentinriller.bsky.social · 15/01/2025
This 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!
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Frédéric Rieux-Laucat @frl-lab.bsky.social · 03/12/2024
Bienvenu au pays du ciel bleu
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Frédéric Rieux-Laucat @frl-lab.bsky.social · 02/12/2024
Everything you always wanted to know about TCR. An outstanding work. Congratulations
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Pieter Meysman @pmeysman.bsky.social · 02/12/2024
Our 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.org
T cell receptor–centric perspective to multimodal single-cell data analysis
T cell receptor–centric perspective improves single-cell analysis.
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Frédéric Rieux-Laucat @frl-lab.bsky.social · 02/12/2024
Welcome Dusan !! Here the sky is blue and people are nice 😊. So happy to see you here. All the best.
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Frédéric Rieux-Laucat @frl-lab.bsky.social · 20/11/2024
🙋🏻‍♂️
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Frédéric Rieux-Laucat @frl-lab.bsky.social · 20/11/2024
Yes please add me !!
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Waggoner Lab @labwaggoner.bsky.social · 19/11/2024
Single-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....
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Frédéric Rieux-Laucat @frl-lab.bsky.social · 19/11/2024
I’d be delighted to be added. All the best
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Frédéric Rieux-Laucat @frl-lab.bsky.social · 19/11/2024
How 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….
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BK. Titanji @boghuma.bsky.social · 18/11/2024
10.3 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.com
Surge in worldwide measles cases driven by lack of vaccine coverage, WHO says
The 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.
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Frédéric Rieux-Laucat @frl-lab.bsky.social · 19/11/2024
Hello, I would be delighted to join
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Frédéric Rieux-Laucat @frl-lab.bsky.social · 18/11/2024
Fantastic !! Count me in !
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Petter Brodin @petterbrodin.bsky.social · 17/11/2024
Recent 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.com
Immune system adaptation during gender-affirming testosterone treatment - Nature
Examination of immunological changes in transgender individuals undergoing gender-affirming testosterone treatment reveals sex hormone-regulated pathways in humans and explains sex-divergent responses...
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