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Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome  Simon.

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Presentation on theme: "Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome  Simon."— Presentation transcript:

1 Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome  Simon T. Cliffe, BSc(Hons), Donald B. Bloch, MD, PhD, Santi Suryani, BSc(Hons), PhD, Erik-Jan Kamsteeg, PhD, Danielle T. Avery, BAppSci, Umaimainthan Palendira, BSc(Hons), PhD, Joseph A. Church, MD, Brynn K. Wainstein, MBBS, FRACP, Antonino Trizzino, MD, Gérard Lefranc, PhD, Carlo Akatcherian, MD, André Megarbané, MD, PhD, Christian Gilissen, PhD, Despina Moshous, MD, Janine Reichenbach, MD, Siraj Misbah, MD, Uli Salzer, PhD, Mario Abinun, FRCP, Peck Y. Ong, MD, Polina Stepensky, MD, Ezia Ruga, MD, John B. Ziegler, MD, FRACP, Melanie Wong, MBBS, PhD, FRACP, Stuart G. Tangye, BSc(Hons), PhD, Robert Lindeman, MBBS, PhD, FRACP, Michael F. Buckley, MBChB, PhD, FRCPA, FRCPath, Tony Roscioli, MBBS, PhD, FRACP  Journal of Allergy and Clinical Immunology  Volume 130, Issue 3, Pages e6 (September 2012) DOI: /j.jaci Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

2 Fig 1 Coexpression of SP140 (A, D, and G, green), wild-type SP110 (B, red), and mutant SP110I27L (SP110leu; E and H, red). The merged fluorescence images in Fig 1, A and B, D and E, and G and H, are shown in panels C, F, and I, respectively. DAPI staining in Fig 1, C, F, and I, indicates the location of nuclei. Journal of Allergy and Clinical Immunology  , e6DOI: ( /j.jaci ) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

3 Fig E1 A model of the structure of SP110 showing the positions of VODI-associated mutations, the alternate splicing pattern of the gene, and the SP110 protein functional domains. Journal of Allergy and Clinical Immunology  , e6DOI: ( /j.jaci ) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

4 Fig E2 SAM plot of the actual intensity data with the observed SAM score plotted against the “expected” SAM score. The line representing observed = expected is in black boldface, whereas the gray lines indicate the significance threshold based on a Δ value of The plot shows significantly different upregulated genes in red (upper right) and significantly different downregulated genes in green (lower left) listed in Table E1. Journal of Allergy and Clinical Immunology  , e6DOI: ( /j.jaci ) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

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