Lesson from hypomorphic recombination-activating gene (RAG) mutations: Why asymptomatic siblings should also be tested Catharina Schuetz, MD, Ulrich.

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Presentation transcript:

Lesson from hypomorphic recombination-activating gene (RAG) mutations: Why asymptomatic siblings should also be tested Catharina Schuetz, MD, Ulrich Pannicke, PhD, Eva-Maria Jacobsen, PhD, Siegfried Burggraf, PhD, Michael H. Albert, MD, Manfred Hönig, MD, Tim Niehues, MD, Oliver Feyen, PhD, Stephan Ehl, MD, Klaus-Michael Debatin, MD, Wilhelm Friedrich, MD, Ansgar S. Schulz, MD, Klaus Schwarz, MD Journal of Allergy and Clinical Immunology Volume 133, Issue 4, Pages 1211-1215.e2 (April 2014) DOI: 10.1016/j.jaci.2013.10.021 Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 A, T-cell receptor excision circle (TREC) and kappa-deleting recombination excision circle (KREC) analyses in patients with hypomorphic RAG. ΔCp (Cp = crossing point in RT-PCR) values represent the logarithmic fold decrease in TREC or KREC amounts in comparison with healthy control subjects. As a template, 50 ng of genomic DNA per run of mononuclear cells was used. Relative amounts of TRECs and KRECs were detected by using a customized ready-to-use kit (TIB Molbiol, Berlin, Germany). Two subjects are not plotted because they had received rituximab before testing. B, V(D)J recombination assays on patients' mutant RAG proteins. Mutant RAG proteins found to be encoded by the RAG1 or RAG2 genes in immunodeficient patients were tested in human primary dermal fibroblasts, as described previously,6 in 3 independent experiments. The percentages of V(D)J recombination activities of the mutant RAG proteins compared with RAG wild-type (WT) proteins are shown. SDs are shown. Negative controls without either RAG1 or RAG2 were in the range of 0.9% and 3.1%, depending on the individual experiments (see Table E2). Journal of Allergy and Clinical Immunology 2014 133, 1211-1215.e2DOI: (10.1016/j.jaci.2013.10.021) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions