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Case Reports
. 2013 Oct;132(4):969-71.e1-2.
doi: 10.1016/j.jaci.2013.06.032. Epub 2013 Jul 24.

Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity

Lauren A Henderson #  1 , Francesco Frugoni #  1 , Gregory Hopkins  2 , Helen de Boer  2 , Sung-Yun Pai  2   3 , Yu Nee Lee  1 , Jolan E Walter  1   4 , Melissa M Hazen  1 , Luigi D Notarangelo  1   5   6
Affiliations
Case Reports

Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity

Lauren A Henderson et al. J Allergy Clin Immunol. 2013 Oct.
No abstract available

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Figures

FIG 1
FIG 1
Immunologic characteristics of patients A and B. A, Expression of RAG1 protein in the Abelson-immortalized lines transfected with the R841Q mutation, the F947L mutation, mock vector, and wild-type RAG1. Actin is a loading control. B, Recombinase activity of the RAG1 mutations as measured based on green fluorescent protein expression in the Abelson-immortalized lines transfected with the R841Q and F947L mutations. C and D, Expression of TCRVβ families in patient B's CD3+ lymphocytes before (Fig 1, C) and after (Fig 1, D) bone marrow transplantation. Open circles, Less than normal values, closed squares, within range; open triangles, greater than normal values.
See this image and copyright information in PMC

References

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