Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations Karin Chen, MD, Wilfred Wu, MD, Divij Mathew, BA, Yuhua Zhang,

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Presentation transcript:

Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations Karin Chen, MD, Wilfred Wu, MD, Divij Mathew, BA, Yuhua Zhang, PhD, Sarah K. Browne, MD, Lindsey B. Rosen, BS, Meghann P. McManus, DO, Michael A. Pulsipher, MD, Mark Yandell, PhD, John F. Bohnsack, MD, Lynn B. Jorde, PhD, Luigi D. Notarangelo, MD, Jolan E. Walter, MD, PhD Journal of Allergy and Clinical Immunology Volume 133, Issue 3, Pages 880-882.e10 (March 2014) DOI: 10.1016/j.jaci.2013.11.038 Copyright © 2013 Terms and Conditions

Fig 1 A, Sanger sequencing chromatogram of parents of the affected children confirms RAG1 mutation carrier status. Arrow indicates mutation position. B, Pedigree of family with RAG1 deficiency. Patient 1 (P1, II.1) and patient 2 (P2, II.4) were affected with autoimmune cytopenias and infections. Het, Heterozygous; WT, wild type. C, Multiple sequence alignment of the RAG1 locus with c.2949delA(p.K983NfsX9) mutation. Journal of Allergy and Clinical Immunology 2014 133, 880-882.e10DOI: (10.1016/j.jaci.2013.11.038) Copyright © 2013 Terms and Conditions

Fig E1 Heatmaps. Yellow indicates fold increase in signal compared with healthy controls (mean + 1 SD). A, IgG autoantibody array using subject samples as indicated. B, IgM autoantibody array using subject samples as indicated. Journal of Allergy and Clinical Immunology 2014 133, 880-882.e10DOI: (10.1016/j.jaci.2013.11.038) Copyright © 2013 Terms and Conditions

Fig E2 Anticytokine autoantibody evaluation. A, Patient and control plasmas were screened for autoantibodies against 9 cytokines. Patient data represent 1 plasma sample from patient P1 and 2 plasma samples from patient P2. B, Normal PBMCs in the presence of patient (pretransplant) or normal plasma were stimulated for 15 minutes with either IFN-α or IFN-γ. Cells were fixed and permeabilized and evaluated by flow cytometry for the presence of either IFN-α– or IFN-γ–induced phosphoSTAT-1. Journal of Allergy and Clinical Immunology 2014 133, 880-882.e10DOI: (10.1016/j.jaci.2013.11.038) Copyright © 2013 Terms and Conditions