Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient Patients
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 b...
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| Format: | Article |
| Language: | English |
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Wiley
2008-01-01
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| Series: | Clinical and Developmental Immunology |
| Online Access: | http://dx.doi.org/10.1155/2008/146715 |
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| author | Sergio Roa Maria Isidoro-Garcia Ignacio Davila Elena Laffond Felix Lorente Rogelio Gonzalez-Sarmiento |
| author_facet | Sergio Roa Maria Isidoro-Garcia Ignacio Davila Elena Laffond Felix Lorente Rogelio Gonzalez-Sarmiento |
| author_sort | Sergio Roa |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-076ef1c553804000b7559ca7fd380bd5 |
| institution | Kabale University |
| issn | 1740-2522 1740-2530 |
| language | English |
| publishDate | 2008-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical and Developmental Immunology |
| spelling | doaj-art-076ef1c553804000b7559ca7fd380bd52025-02-03T01:23:18ZengWileyClinical and Developmental Immunology1740-25221740-25302008-01-01200810.1155/2008/146715146715Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient PatientsSergio Roa0Maria Isidoro-Garcia1Ignacio Davila2Elena Laffond3Felix Lorente4Rogelio Gonzalez-Sarmiento5Molecular Medicine Unit, Department of Medicine, University of Salamanca, 37007 Salamanca, SpainMolecular Medicine Unit, Department of Medicine, University of Salamanca, 37007 Salamanca, SpainDepartment of Allergy, University Hospital of Salamanca, 37007 Salamanca, SpainDepartment of Allergy, University Hospital of Salamanca, 37007 Salamanca, SpainDepartment of Allergy, University Hospital of Salamanca, 37007 Salamanca, SpainMolecular Medicine Unit, Department of Medicine, University of Salamanca, 37007 Salamanca, SpainUnderstanding 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.http://dx.doi.org/10.1155/2008/146715 |
| spellingShingle | Sergio Roa Maria Isidoro-Garcia Ignacio Davila Elena Laffond Felix Lorente Rogelio Gonzalez-Sarmiento Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient Patients Clinical and Developmental Immunology |
| title | Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient Patients |
| title_full | Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient Patients |
| title_fullStr | Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient Patients |
| title_full_unstemmed | Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient Patients |
| title_short | Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient Patients |
| title_sort | molecular analysis of activation induced cytidine deaminase gene in immunoglobulin e deficient patients |
| url | http://dx.doi.org/10.1155/2008/146715 |
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