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EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease  David C. Thomas, MD, PhD, Louis-Marie Charbonnier, PhD, Andrea.

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Presentation on theme: "EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease  David C. Thomas, MD, PhD, Louis-Marie Charbonnier, PhD, Andrea."— Presentation transcript:

1 EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease 
David C. Thomas, MD, PhD, Louis-Marie Charbonnier, PhD, Andrea Schejtman, MSc, Hasan Aldhekri, MD, PhD, Eve L. Coomber, MSci, Elizabeth R. Dufficy, MRes, Anne E. Beenken, MPhil, James C. Lee, MD, PhD, Simon Clare, PhD, Anneliese O. Speak, PhD, Adrian J. Thrasher, MD, PhD, Giorgia Santilli, PhD, Hamoud Al-Mousa, MD, PhD, Fowzan S. Alkuraya, MD, PhD, Talal A. Chatila, MD, PhD, Kenneth G.C. Smith, MD, PhD  Journal of Allergy and Clinical Immunology  Volume 143, Issue 2, Pages e1 (February 2019) DOI: /j.jaci Copyright © Terms and Conditions

2 Fig 1 EROS function is conserved in humans. Western blot of EROS (A), gp91phox (B), p22phox (C), surface gp91phox expression (D), and phagocyte respiratory burst in CRISPR targeted PLB-985 clones (E). F, Surface expression of gp91phox in CRISPR targeted cells ± overexpression of EROS-GFP. G, NBT reduction following reconstitution with EROS-GFP lentiviral vector. Representative of 3 independent experiments. NBT, Nitro blue tetrazolium chloride. Journal of Allergy and Clinical Immunology  , e1DOI: ( /j.jaci ) Copyright © Terms and Conditions

3 Fig 2 Homozygous EROS mutation has deleterious effects. A and B, Respiratory burst in patient and healthy control neutrophils. C, Homozygous c.127 G to A mutation. D, EROS protein expression in CD3/CD2/CD28–expanded PBMCs from patient, sister, and a healthy control, control CD4+ T cells before and after CD3/CD2/CD28, or PBMCs from a further healthy control. Representative of 2-3 independent experiments. Journal of Allergy and Clinical Immunology  , e1DOI: ( /j.jaci ) Copyright © Terms and Conditions

4 Fig E1 Targeting of EROS for deletion by CRISPR-Cas9. A, Schematic representation of the human CYBC1 genomic locus and of guide RNA targeting exon 3. B and C, Sequencing analysis from 2 clones derived from PLB985 cells that had been electroporated with Cas9:gRNA ribonucleoprotein complex, showing deletion of 8 bp in clone 14 and deletion of 1 bp in clone 20. Journal of Allergy and Clinical Immunology  , e1DOI: ( /j.jaci ) Copyright © Terms and Conditions

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