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Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets- binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter 

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Presentation on theme: "Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets- binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter "— Presentation transcript:

1 Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets- binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter  Anita Chandra, MRCP, FRCPath, PhD, Fang Zhang, PhD, Kimberly C. Gilmour, FRCPath, PhD, David Webster, FRCPath, Vincent Plagnol, PhD, Dinakantha S. Kumararatne, FRCPath, DPhil, Siobhan O. Burns, MB, PhD, MRCPI(Paeds), Sergey Nejentsev, MD, PhD, Adrian J. Thrasher, MRCP, PhD  Journal of Allergy and Clinical Immunology  Volume 137, Issue 3, Pages e4 (March 2016) DOI: /j.jaci Copyright © 2015 The Authors Terms and Conditions

2 Fig 1 Reduced IL2RG expression and function. A and B, Common γc expression on lymphocytes (Fig 1, A) in a control subject (CON), the grandson (GS), and the grandfather (GF), as well as IL2RG mRNA expression (Fig 1, B). C, Phosphorylated STAT5 (pSTAT5) expression after stimulation with cytokines (dark gray) or unstimulated (light gray). Mean fluorescence intensities are shown in parentheses. D, Illustration of the point mutation in the IL2RG promoter with the ETS consensus sequence underscored. E, Expression of common γc after transduction of ED7R cells. The vector copy number (VCN) per cell is shown. Journal of Allergy and Clinical Immunology  , e4DOI: ( /j.jaci ) Copyright © 2015 The Authors Terms and Conditions

3 Fig 2 Electrophoretic mobility shift assay. Biotin-labeled wild-type or mutant oligonucleotides incubated without nuclear extracts (lanes 1 and 4), with nuclear extracts (lanes 2, 3, 5, and 6), and in the absence (lanes 2 and 5) or presence (lanes 3 and 6) of an excess of unlabeled oligonucleotides. A supershift DNA/protein complex band is detected and marked. The free-labeled oligonucleotide is indicated. Journal of Allergy and Clinical Immunology  , e4DOI: ( /j.jaci ) Copyright © 2015 The Authors Terms and Conditions

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