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Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation

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Presentation on theme: "Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation"— Presentation transcript:

1 Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation
David Buchbinder, MD, Jeffrey R. Stinson, MS, Diane J. Nugent, MD, Lucie Heurtier, MSc, Felipe Suarez, MD, PhD, Gauthaman Sukumar, PhD, Clifton L. Dalgard, PhD, Cécile Masson, MSc, Mélanie Parisot, BSc, Yu Zhang, PhD, Helen F. Matthews, RN, Helen C. Su, MD, PhD, Anne Durandy, MD, PhD, Alain Fischer, MD, PhD, Sven Kracker, PhD, Andrew L. Snow, PhD  Journal of Allergy and Clinical Immunology  Volume 136, Issue 3, Pages e1 (September 2015) DOI: /j.jaci Copyright © Terms and Conditions

2 Fig 1 Gain-of-function missense mutation in CARD11 (C49Y) in 3 patients with BENTA. A, Sanger gDNA sequencing of patients with BENTA with the C49Y mutation. B, Schematic diagram of CARD11 with BENTA-associated mutations. C, Fluorescent microscopy of CARD11-deficient JPM50.6 T cells transfected with FLAG-CARD11 constructs. White arrows indicate CARD11 aggregates. Scale bars = 5 μm. D, Flow cytometric quantitation of κB-driven GFP reporter and immunblotting of CARD11-FLAG in transfected JPM50.6 cells. EV, Empty vector; mock, untransfected cells; Pt, patient; WT, wild type. Journal of Allergy and Clinical Immunology  , e1DOI: ( /j.jaci ) Copyright © Terms and Conditions

3 Fig E1 A, BJAB B cells were transfected with FLAG-CARD11 constructs and analyzed by fluorescent confocal microscopy 24 hours after transfection, staining with antibodies against FLAG, MALT1, and phospho-IKK. White arrows indicate mutant CARD11 aggregates. Scale bars = 5 μM. B, BJAB B cells were transfected as in Fig E1, A and assayed 24 hours later for NF-κB–dependent CD83 expression by flow cytometry. Mean fluorescence intensity (MFI) values for CD83 are shown, indicative of the relative amount of NF-κB activation. Immunoblotting of whole-cell lysates is shown at right. EV, Empty vector; IKK, IκB kinase; mock, untransfected cells; WT, wild type. Journal of Allergy and Clinical Immunology  , e1DOI: ( /j.jaci ) Copyright © Terms and Conditions

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