Ataxia Telangiectasia Patients Presented by Class Switch Recombination Defect: Elevated Serum Levels of IgM

Abstract

Event Abstract Back to Event Ataxia Telangiectasia Patients Presented by Class Switch Recombination Defect: Elevated Serum Levels of IgM Babak Mirminachi1, Asghar Aghamohammadi1, Hassan Abolhassani1*, Sujal Ghosh2 and Arndt Borkhardt2* 1 Tehran University of Medical Science, Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Iran 2 Department of Pediatric Oncology, Hematology and Immunology, Heinrich Heine University Medical Center, Germany Ataxia telangiectasia (AT) is a rare primary immunodeficiency disorder with various clinical manifestations. Increased serum levels of IgM and recurrent infections can be the presenting feature in a few cases of AT patients and may be initially misdiagnosed as hyper-IgM (HIgM) syndrome. This study was designed to investigate class switch recombination (CSR) as a critical mechanism in B lymphocytes’ maturation to produce different isotypes of antibody in response to antigen stimulation in AT cases with HIgM presentation. Quantitative IgE production after stimulation by IL-4 and CD40L was considered as an indicator for CSR function. We also compared their results with sex and age matched controls of AT patients with normal values of IgM. We report four AT patients who presented episodes of recurrent infections during infancy and high serum levels of IgM. Laboratory evaluation in these cases revealed defective CSR while none of 3 controls had a defect in the CSR process. The characterized defect in AT is a mutation in the ataxia telangiectasia mutated (ATM) gene. This gene may result in CSR defects due to impaired DNA break repair. A special association of AT and HIgM may indicate a new subgroup of AT patients according to their clinical phenotype and CSR condition. Keywords: Ataxia Telangiectasia, Class switch recombination, hyper-IgM syndrome, DNA break repair, ataxia telangiectasia mutated (ATM) gene Conference: 15th International Congress of Immunology (ICI), Milan, Italy, 22 Aug - 27 Aug, 2013. Presentation Type: Abstract Topic: Adaptive Immunity Citation: Mirminachi B, Aghamohammadi A, Abolhassani H, Ghosh S and Borkhardt A (2013). Ataxia Telangiectasia Patients Presented by Class Switch Recombination Defect: Elevated Serum Levels of IgM. Front. Immunol. Conference Abstract: 15th International Congress of Immunology (ICI). doi: 10.3389/conf.fimmu.2013.02.00376 Copyright: The abstracts in this collection have not been subject to any Frontiers peer review or checks, and are not endorsed by Frontiers. They are made available through the Frontiers publishing platform as a service to conference organizers and presenters. The copyright in the individual abstracts is owned by the author of each abstract or his/her employer unless otherwise stated. Each abstract, as well as the collection of abstracts, are published under a Creative Commons CC-BY 4.0 (attribution) licence (https://creativecommons.org/licenses/by/4.0/) and may thus be reproduced, translated, adapted and be the subject of derivative works provided the authors and Frontiers are attributed. For Frontiers’ terms and conditions please see https://www.frontiersin.org/legal/terms-and-conditions. Received: 16 Mar 2013; Published Online: 22 Aug 2013. * Correspondence: Dr. Hassan Abolhassani, Tehran University of Medical Science, Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran, Iran, hassan.abolhassani@ki.se Prof. Arndt Borkhardt, Department of Pediatric Oncology, Hematology and Immunology, Heinrich Heine University Medical Center, Dusseldorf, Germany, Arndt.Borkhardt@med.uni-duesseldorf.de Login Required This action requires you to be registered with Frontiers and logged in. To register or login click here. Abstract Info Abstract The Authors in Frontiers Babak Mirminachi Asghar Aghamohammadi Hassan Abolhassani Sujal Ghosh Arndt Borkhardt Google Babak Mirminachi Asghar Aghamohammadi Hassan Abolhassani Sujal Ghosh Arndt Borkhardt Google Scholar Babak Mirminachi Asghar Aghamohammadi Hassan Abolhassani Sujal Ghosh Arndt Borkhardt PubMed Babak Mirminachi Asghar Aghamohammadi Hassan Abolhassani Sujal Ghosh Arndt Borkhardt Related Article in Frontiers Google Scholar PubMed Abstract Close Back to top Javascript is disabled. Please enable Javascript in your browser settings in order to see all the content on this page.