Screening of functional and positional candidate genes in families with common variable immunodeficiency

BackgroundCommon 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.ResultsThe exonic, protein coding regions of the genes encoding: APRIL, BCMA, IL10, IL10Rα, IL10Rβ, 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, IL10Rα, IL21 and IL21R were observed at similar frequencies as in healthy donors.ConclusionWe were unable to identify obvious disease causing mutations in the protein coding regions of the analyzed genes in the studied cohort.

• Publication year

  2008

• Venue

  BMC Immunology

• Publication date

  2008-02-07

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1186/1471-2172-9-3PMID 18254984PMCID 2268914
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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