Quentin Riller

MD, internal medicine and clinical immunology resident @APHP. PhD immunology, post-doc @FRLab1 @InstitutImagine #SingleCell #Rstats

[Quentin Riller @PixelleQR]

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 https://t.co/sGYWA2kUeo

[BogunovicLab @BogunovicLab]

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

[Petter Brodin @BrodinPetter]

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: https://t.co/wYKFp8UGPM

[Jerome HADJADJ @HadjadjJerome]

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. https://t.co/zlcWzhvMhF

[Lin-Pierre ZHAO @LinPierreZhao]

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 🇫🇷
https://t.co/WPUWBYd8ja

[Jerome HADJADJ @HadjadjJerome]

We're glad to share this article published in @Hemasphere_EHA showing that mutations in IDH (IDH1/2) can act as drivers of inflammation. https://t.co/FzIW6x12kK

[Jerome HADJADJ @HadjadjJerome]

Human plasma proteomic profile of clonal hematopoiesis https://t.co/HhjVlxZPWw

[Jerome HADJADJ @HadjadjJerome]

Impaired cytotoxic function and exhausted phenotype of natural killer cells in VEXAS syndrome
Congrats @PBreillat @TerrierBen @KosmiderO https://t.co/9RFXKXLxht

[Blood Journals Portfolio @BloodPortfolio]

In the absence of an HLA-identical donor, haploidentical HSCT with either TCRαβ/CD19 depletion or PTCY is a feasible option in CGD. https://t.co/aFbFReR8Ei #transplantation #phagocytesgranulocytesandmyelopoiesis

[Journal of Experimental Medicine @JExpMed]

.@PixelleQR et al. present the first case of biallelic CHUK mutations disrupting IKKα kinase function, broadening the understanding of non-canonical NF-κB defects https://t.co/cGnBuP4jp2

📘 In Genes & Immunity collection: https://t.co/RCds0JY9RS
#HKS2025

[NEJM @NEJM]

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: https://t.co/U8cGYPIvRG

[Journal of Experimental Medicine @JExpMed]

.@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. https://t.co/T7o6VL08CF

[Jerome HADJADJ @HadjadjJerome]

Our Editorial : Improving Outcomes in VEXAS Syndrome: The Need for Prospective Data https://t.co/FslQhhaSLd

[Journal of Experimental Medicine @JExpMed]

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: https://t.co/eBFzjvFPuB

#Autoimmunity #HumanDiseaseGenetics

[Quentin Riller @PixelleQR]

@Jeremy_Goc @JExpMed Thank you Jeremy!

[Quentin Riller @PixelleQR]

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 https://t.co/sGYWA2kUeo

[Quentin Riller @PixelleQR]

@LorisPSA @JExpMed Un influenceur

[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 https://t.co/eNDwhv6hAD

[Waggoner Lab @LabWaggoner]

Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans
@JExpMed @PixelleQR @NevenBenedicte
https://t.co/gnGy7NlB1N

[Quentin Riller @PixelleQR]

@HadjadjJerome Thanks Jerome! 😀😀