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Case Reports
. 2012 Dec;130(6):1428-32.
doi: 10.1016/j.jaci.2012.07.035. Epub 2012 Sep 14.

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

Siobhan O Burns, Helen L Zenner, Vincent Plagnol, James Curtis, Kin Mok, Michael Eisenhut, Dinakantha Kumararatne, Rainer Doffinger, Adrian J Thrasher, Sergey Nejentsev
Case Reports

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

Siobhan O Burns et al. J Allergy Clin Immunol. 2012 Dec.
No abstract available

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Figures

Figure 1
Figure 1. Homozygous deletion in the LRBA gene region
A – homozygous deletion identified by ExomeDepth in the exome sequence data (estimated 99% confidence interval is shown in grey); B - validation of ~252 kb deletion using a targeted CGH array; C - sequencing of the deletion breakpoints (in patient P1 the deleted region is replaced by three nucleotides, GGT).
Figure 2
Figure 2. LRBA mRNA and protein are expressed in the EBV-transformed B cell line from a healthy control, but are absent in patient P1
A - RT-PCR; B - Western blot; C - Immunofluorescence analysis (LRBA – green, DNA - blue, scale bars represent 10 μm).
See this image and copyright information in PMC

References

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