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Clinical and Developmental Immunology
Volume 2008, Article ID 146715, 6 pages
Research Article

Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient Patients

1Molecular Medicine Unit, Department of Medicine, University of Salamanca, 37007 Salamanca, Spain
2Department of Cell Biology, Albert Einstein College of Medicine, Bronx, NY 10461, USA
3Department of Allergy, University Hospital of Salamanca, 37007 Salamanca, Spain
4Centro de Investigación del Cáncer (CIC-IBMCC), University of Salamanca, 37007 Salamanca, Spain

Received 30 September 2008; Accepted 18 December 2008

Academic Editor: Kurt Blaser

Copyright © 2008 Sergio Roa et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Understanding how class switch recombination (CSR) is regulated to produce immunoglobulin E (IgE) has become fundamental because of the dramatic increase in the prevalence of IgE-mediated hypersensitivity reactions. CSR requires the induction of the enzyme AICDA in B cells. Mutations in AICDA have been linked to Hyper-IgM syndrome (HIGM2), which shows absence of switching to IgE as well as to IgG and IgA. Although isolated IgE deficiency is a rare entity, here we show some individuals with normal serum IgM, IgG, and IgA levels that had undetectable total serum IgE levels. We have analyzed the AICDA gene in these individuals to determine if there are mutations in AICDA that could lead to selective IgE deficiency. Conformational sensitive gel electrophoresis (CSGE) and sequencing analysis of AICDA coding sequences demonstrated sequence heterogeneity due to 5923A/G and 7888C/T polymorphisms, but did not reveal any novel mutation that might explain the selective IgE deficit.