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Case Reports
. 2016 Mar;137(3):940-2.e4.
doi: 10.1016/j.jaci.2015.08.049. Epub 2015 Oct 31.

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  1 , Fang Zhang  2 , Kimberly C Gilmour  3 , David Webster  4 , Vincent Plagnol  5 , Dinakantha S Kumararatne  6 , Siobhan O Burns  7 , Sergey Nejentsev  8 , Adrian J Thrasher  9
Affiliations
Case Reports

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 et al. J Allergy Clin Immunol. 2016 Mar.
No abstract available

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Figures

Fig 1
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.
Fig 2
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.
See this image and copyright information in PMC

References

    1. Modell V., Gee B., Lewis D.B., Orange J.S., Roifman C.M., Routes J.M. Global study of primary immunodeficiency diseases (PI)—diagnosis, treatment, and economic impact: an updated report from the Jeffrey Modell Foundation. Immunol Res. 2011;51:61–70. - PubMed
    1. Puck J.M., Pepper A.E., Henthorn P.S., Candotti F., Isakov J., Whitman T. Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. Blood. 1997;89:1968–1977. - PubMed
    1. Ochs H.D. Common variable immunodeficiency (CVID): new genetic insight and unanswered questions. Clin Exp Immunol. 2014;178(suppl 1):5–6. - PMC - PubMed
    1. Markiewicz S., Bosselut R., Le Deist F., de Villartay J.P., Hivroz C., Ghysdael J. Tissue-specific activity of the gammac chain promoter depends upon an Ets binding site and is regulated by GA-binding protein. J Biol Chem. 1996;271:14849–14855. - PubMed
    1. Niemela J.E., Puck J.M., Fischer R.E., Fleischer T.A., Hsu A.P. Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. Clin Immunol. 2000;95:33–38. - PubMed

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