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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

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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