Compartir
Título
Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient Patients
Autor(es)
Materia
Allergology
Enfermedades inmunológicas
Alergia
Immunologic diseases
Allergy
Fecha de publicación
2008
Editor
Hindawi Publishing Corporation
Citación
Roa, S., Isidoro-García, M., Dávila, I., Laffond, E., Lorente, F., González-Sarmiento, R. (2008). Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient Patients. Clinical and Developmental Immunology, pp. 1-6
Resumen
[EN]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.
URI
ISSN
1740-2522
DOI
10.1155/2008/146715
Versión del editor
Colecciones