Quentin Riller (@PixelleQR) - Twitter Profili | Zamantika Mersobahis Locabet

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Thrilled to share our latest in @JExpMed ! 🚨 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! 🧬

Journal of Experimental Medicine@JExpMed

.@PixelleQR, Rieux-Laucat et al @InstitutImagine 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 hubs.la/Q032HC0Z0

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BogunovicLab@BogunovicLab·26 Şub

Latest from us👇🏼 😀 #fibrosis #interferon type I #apoptosis #woundhealing #ISG15deficiency

Journal of Human Immunity@jhumimmunity

Sazeides et al. @BogunovicLab show that human ISG15 deficiency is a monogenic syndrome that poises individuals to a proapoptotic and profibrotic state that can lead to lung and skin damage with scarring and impaired function via chronic inflammation. hubs.la/Q044Ds9W0

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Petter Brodin@BrodinPetter·23 Şub

New paper📢 - how many individuals are affected by an autoimmune disease. Together with epidemiology experts Jonas Ludvigsson we use 🇸🇪 population regsitry and find that 1/13 adults and 1/67 children are affected by autoimmunity: link.springer.com/article/10.100…

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Jerome HADJADJ@HadjadjJerome·16 Şub

Lancement officiel de Corticomed, l'outil d'aide à la décroissance des corticoides en médecine interne. Gratuit, simple et basé sur les recommandations nationales et internationales. share.google/aVhMWV6wi9Phen…

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Lin-Pierre ZHAO@LinPierreZhao·18 Oca

Excited to share our new article in @LeukemiaJournal on the prevalence and prognostic impact of myelodysplasia-related features in #VEXAS. A nationwide effort from the French FRENVEX network 🇫🇷 rdcu.be/eZlvF

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Jerome HADJADJ@HadjadjJerome·27 Kas

We're glad to share this article published in @Hemasphere_EHA showing that mutations in IDH (IDH1/2) can act as drivers of inflammation. onlinelibrary.wiley.com/doi/10.1002/he…

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Jerome HADJADJ@HadjadjJerome·29 Kas

Human plasma proteomic profile of clonal hematopoiesis nature.com/articles/s4146…

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Jerome HADJADJ@HadjadjJerome·30 Tem

Impaired cytotoxic function and exhausted phenotype of natural killer cells in VEXAS syndrome Congrats @PBreillat @TerrierBen @KosmiderO ashpublications.org/blood/article-…

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Blood Journals Portfolio@BloodPortfolio·23 May

In the absence of an HLA-identical donor, haploidentical HSCT with either TCRαβ/CD19 depletion or PTCY is a feasible option in CGD. ow.ly/t17w50VXkhp #transplantation #phagocytesgranulocytesandmyelopoiesis

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Journal of Experimental Medicine@JExpMed·11 Nis

.@PixelleQR et al. present the first case of biallelic CHUK mutations disrupting IKKα kinase function, broadening the understanding of non-canonical NF-κB defects hubs.la/Q03ggWjC0 📘 In Genes & Immunity collection: hubs.la/Q03ggWgF0 #HKS2025

Journal of Experimental Medicine tweet media

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NEJM@NEJM·6 Şub

A woman with multiply relapsed multiple myeloma had complete remission with cilta-cel, but a low-grade T-cell lymphoma soon developed in the GI tract that contained an insertion of the CAR construct disrupting expression of p53. Read the Brief Report: nej.md/40Yq3gO

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Journal of Experimental Medicine@JExpMed·29 Oca

.@PixelleQR et al. @InstitutImagine present the first case of biallelic CHUK mutations disrupting IKKα kinase function, broadening non-canonical NF-κB defect understanding, and suggesting IKKα’s role in canonical NF-κB target gene expression in humans. hubs.la/Q032H94v0

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Jerome HADJADJ@HadjadjJerome·28 Oca

Our Editorial : Improving Outcomes in VEXAS Syndrome: The Need for Prospective Data academic.oup.com/rheumatology/a…

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Journal of Experimental Medicine@JExpMed·22 Oca

Mutations disrupting the kinase domain of IKKα lead to #immunodeficiency and immune dysregulation in humans, say Quentin Riller (@PixelleQR), Frédéric Rieux-Laucat and colleagues @InstitutImagine: hubs.la/Q032H50m0 #Autoimmunity #HumanDiseaseGenetics

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Quentin Riller@PixelleQR·16 Oca

@Jeremy_Goc @JExpMed Thank you Jeremy!

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Jeremy Goc@Jeremy_Goc·16 Oca

@PixelleQR @JExpMed Congrats Quentin!

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Quentin Riller@PixelleQR·16 Oca

Thrilled to share our latest in @JExpMed ! 🚨 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! 🧬

Journal of Experimental Medicine@JExpMed

.@PixelleQR, Rieux-Laucat et al @InstitutImagine 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 hubs.la/Q032HC0Z0

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Quentin Riller@PixelleQR·16 Oca

@LorisPSA @JExpMed Un influenceur

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Loris@LorisPSA·16 Oca

@PixelleQR @JExpMed Thrilled to share, dive into the details Who are you?

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Rockefeller U. Press@RockUPress·15 Oca

In @JExpMed, @PixelleQR, Rieux-Laucat et al. 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 hubs.la/Q032HMky0

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Waggoner Lab@LabWaggoner·16 Oca

Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans @JExpMed @PixelleQR @NevenBenedicte doi.org/10.1084/jem.20…

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Quentin Riller@PixelleQR·16 Oca

@HadjadjJerome Thanks Jerome! 😀😀

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Jerome HADJADJ@HadjadjJerome·16 Oca

Congrats @PixelleQR !

Rockefeller U. Press@RockUPress

In @JExpMed, @PixelleQR, Rieux-Laucat et al. 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 hubs.la/Q032HMky0

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