Salzer, U; Neumann, C; Thiel, J; Woellner, C; Pan-Hammarstrom, Q; Lougaris, V; ... Grimbacher, B; + view all Salzer, U; Neumann, C; Thiel, J; Woellner, C; Pan-Hammarstrom, Q; Lougaris, V; Hagena, T; Jung, J; Birmelin, J; Du, L; Metin, A; Webster, DA; Plebani, A; Moschese, V; Hammarstroo, L; Schaffer, AA; Grimbacher, B; - view fewer (2008) Screening of functional and positional candidate genes in families with common variable immunodeficiency. [Newspaper article]. BMC Immunology , 9 , Article 3. 10.1186/1471-2172-9-3.
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Background: Common variable immunodeficiency (CVID) comprises a heterogeneous group of primary antibody deficiencies with complex clinical and immunological phenotypes. The recent discovery that some CVID patients show monogenic defects in the genes encoding ICOS, TACI or CD19 prompted us to investigate several functional candidate genes in individuals with CVID.Results: The exonic, protein coding regions of the genes encoding: APRIL, BCMA, IL10, IL10R alpha, IL10R beta, IL21, IL21R, and CCL18, were analyzed primarily in familial CVID cases, who showed evidence of genetic linkage to the respective candidate gene loci and CVID families with a recessive pattern of inheritance. Two novel SNPs were identified in exon 5 and exon 8 of the IL21R gene, which segregated with the disease phenotype in one CVID family. Eleven additional SNPs in the genes encoding BCMA, APRIL, IL10, IL10Ra, IL21 and IL21R were observed at similar frequencies as in healthy donors.Conclusion: We were unable to identify obvious disease causing mutations in the protein coding regions of the analyzed genes in the studied cohort.
|Title:||Screening of functional and positional candidate genes in families with common variable immunodeficiency|
|Open access status:||An open access publication. A version is also available from UCL Discovery.|
|Additional information:||© 2008 Salzer et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.|
|Keywords:||SELECTIVE IGA DEFICIENCY, MAJOR HISTOCOMPATIBILITY COMPLEX, LINKAGE ANALYSIS, B-CELLS, ICOS DEFICIENCY, PLASMA-CELLS, BONE-MARROW, MUTATIONS, IL-21, TACI|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Medical Sciences > Infection and Immunity (Division of) > Research Department of Immunology|
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