Quentin Riller
@PixelleQR
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MD, internal medicine and clinical immunology resident @APHP. PhD immunology, post-doc @FRLab1 @InstitutImagine #SingleCell #Rstats
Paris
Joined December 2011
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! 🧬.
.@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
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RT @TerrierBen: Thrilled to share our latest research on impaired cytotoxic function and exhausted phenotype of NK cells in #VEXAS, with @….
ashpublications.org
Key Points. NK cells phenotyping reveals impaired cytotoxicity, chronic activation and exhaustion in VEXAS syndrome.Decreased circulating NK cells were ind
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RT @HadjadjJerome: Impaired cytotoxic function and exhausted phenotype of natural killer cells in VEXAS syndrome.Congrats @PBreillat @Terri….
ashpublications.org
Key Points. NK cells phenotyping reveals impaired cytotoxicity, chronic activation and exhaustion in VEXAS syndrome.Decreased circulating NK cells were ind
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RT @BloodJournal: In the absence of an HLA-identical donor, haploidentical HSCT with either TCRαβ/CD19 depletion or PTCY is a feasible opti….
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RT @JExpMed: .@PixelleQR et al. present the first case of biallelic CHUK mutations disrupting IKKα kinase function, broadening the understa….
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RT @NEJM: A woman with multiply relapsed multiple myeloma had complete remission with cilta-cel, but a low-grade T-cell lymphoma soon devel….
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RT @JExpMed: .@PixelleQR et al. @InstitutImagine present the first case of biallelic CHUK mutations disrupting IKKα kinase function, broade….
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RT @HadjadjJerome: Our Editorial : Improving Outcomes in VEXAS Syndrome: The Need for Prospective Data
academic.oup.com
This editorial refers to ‘Low remission rates and high incidence of adverse events in a prospective VEXAS syndrome registry’ by Kirino et al., 2025;64:3872
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RT @JExpMed: Mutations disrupting the kinase domain of IKKα lead to #immunodeficiency and immune dysregulation in humans, say Quentin Rille….
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RT @RockUPress: In @JExpMed, @PixelleQR, Rieux-Laucat et al. show that IKKα kinase deficiency causes syndromic #immunodeficiency & immune d….
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RT @LabWaggoner: Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.@JExpMed @Pixel….
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@InstitutImagine @NevenBenedicte @IsabelleMeyts @casanova_lab @anne_puel Many thanks to all co authors involved and to our financial supports including among others @AgenceRecherche @agenceANRS @NIH @Inserm @APHP.
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This work was done in the laboratory of Frédéric Rieux-Laucat at @InstitutImagine with @NevenBenedicte in collaboration with colleagues from France and Belgium including @IsabelleMeyts @casanova_lab @anne_puel Emmanuel Dejardin and others.
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RT @BogunovicLab: What Happens When Some Cells Are More Dad Than Mom (and Vice Versa)? .Latest from us. Published today. News here https://….
cuimc.columbia.edu
A new study shows that some of our cells favor genes of one parent or the other and can explain a longstanding mystery of why some people with disease-causing genes experience no symptoms.
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RT @HaoYin20: tidyplots. Time to say goodbye to ggplot2?🫡. "a significant reduction of code complexity" vs ggplot2. .
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Bravo @rodari_marco & @marparl1 !.
1/ Thrilled to finally share this story in @JExpMed! 🚨 First identification of human Integrin alpha V deficiency, a new #TGFbeta signalopathy 🚨.
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RT @NEJM: Shortly after a patient received CAR T-cell therapy for relapsed CNS lymphoma, an aggressive CAR+ T-cell lymphoma was diagnosed.….
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RT @anne_puel: 1/ Thrilled to share our latest publication in @JCI on humans with inherited IL7 deficiency! 🧵👇
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