title: Molecular analysis of activation-induced cytidine deaminase gene in immunoglobulin-E deficient patients.
abstract: 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.
authors.affiliation: Molecular Medicine Unit, Department of Medicine, University of Salamanca, 37007 Salamanca, Spain.
authors.forename: Sergio
authors.initials: S
authors.lastname: Roa
authors.forename: Maria
authors.initials: M
authors.lastname: Isidoro-Garcia
authors.forename: Ignacio
authors.initials: I
authors.lastname: Davila
authors.forename: Elena
authors.initials: E
authors.lastname: Laffond
authors.forename: Felix
authors.initials: F
authors.lastname: Lorente
authors.forename: Rogelio
authors.initials: R
authors.lastname: Gonzalez-Sarmiento
mesh_terms: D000328:Adult; D001483:Base Sequence; D003564:Cytidine Deaminase / Q000235:genetics*; D005260:Female; D006801:Humans; D053306:Hyper-IgM Immunodeficiency Syndrome / Q000235:genetics / Q000378:metabolism; D017578:Immunoglobulin Class Switching / Q000235:genetics; D007073:Immunoglobulin E / Q000097:blood / Q000172:deficiency*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D000098830:AICDA (Activation-Induced Cytidine Deaminase)
chemical_list: D007073:Immunoglobulin E; D000098830:AICDA (Activation-Induced Cytidine Deaminase); D003564:Cytidine Deaminase