Siobhan O. Burns, MD, PhD, Helen L

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Presentation transcript:

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia Siobhan O. Burns, MD, PhD, Helen L. Zenner, PhD, Vincent Plagnol, PhD, James Curtis, BSc, Kin Mok, MBBS, MSc, Michael Eisenhut, MD, Dinakantha Kumararatne, MD, Rainer Doffinger, PhD, Adrian J. Thrasher, MD, PhD, Sergey Nejentsev, MD, PhD Journal of Allergy and Clinical Immunology Volume 130, Issue 6, Pages 1428-1432 (December 2012) DOI: 10.1016/j.jaci.2012.07.035 Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Homozygous deletion in the LRBA gene region. A, Homozygous deletion identified by ExomeDepth in the exome sequence data (estimated 99% CI is shown in gray). B, Validation of ∼252-kb deletion with the use of a targeted comparative genomic hybridization array. C, Sequencing of the deletion breakpoints (in patient P1 the deleted region is replaced by 3 nucleotides, GGT). Journal of Allergy and Clinical Immunology 2012 130, 1428-1432DOI: (10.1016/j.jaci.2012.07.035) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 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 analysis. C, Immunofluorescence analysis (LRBA, green; DNA, blue; scale bars, 10 μm). Journal of Allergy and Clinical Immunology 2012 130, 1428-1432DOI: (10.1016/j.jaci.2012.07.035) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions