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Case Reports
. 2012 Dec;130(6):1414-6.
doi: 10.1016/j.jaci.2012.06.012. Epub 2012 Jul 25.

A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome

Janet Chou, Rima Hanna-Wakim, Irit Tirosh, Jennifer Kane, David Fraulino, Yu Nee Lee, Soha Ghanem, Iman Mahfouz, André Mégarbané, Gérard Lefranc, Adlette Inati, Ghassan Dbaibo, Silvia Giliani, Luigi D Notarangelo, Raif S Geha, Michel J Massaad
Case Reports

A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome

Janet Chou et al. J Allergy Clin Immunol. 2012 Dec.
No abstract available

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Figures

FIG 1
FIG 1
Recombination activity of RAG2(M459L) mutant. Abelson-transformed Rag2−/− tg.bcl2 pro-B cells containing an inverted GFP cassette were transduced with retroviral vectors encoding wild-type or M459L mutant human RAG2, and human CD2 as a reporter. An empty vector encoding CD2 was used as a negative control and resulted in no GFP expression. A, GFP expression on CD2+ cells indicate the recombinase activity level. Shown are representative histograms from three independent experiments. B, Bar graph represents the average recombination activity from three independent experiments (n=3). The recombination activity is calculated as percent activity of wild-type RAG2.
See this image and copyright information in PMC

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References

    1. Schatz DG, Ji Y. Recombination centres and the orchestration of V(D)J recombination. Nat Rev Immunol. 2011;11:251–63. - PubMed
    1. Niehues T, Perez-Becker R, Schuetz C. More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2. Clin Immunol. 2010;135:183–92. - PubMed
    1. Schuetz C, Huck K, Gudowius S, Megahed M, Feyen O, Hubner B, et al. An immunodeficiency disease with RAG mutations and granulomas. N Engl J Med. 2008;358:2030–8. - PubMed
    1. Vale AM, Schroeder HW., Jr Clinical consequences of defects in B-cell development. J Allergy Clin Immunol. 2010;125:778–87. - PMC - PubMed
    1. Couedel C, Roman C, Jones A, Vezzoni P, Villa A, Cortes P. Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination. J Clin Invest. 2010;120:1337–44. - PMC - PubMed

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