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Open Access 01-12-2008 | Research article

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

Authors: Ulrich Salzer, Carla Neumann, Jens Thiel, Cristina Woellner, Qiang Pan-Hammarström, Vassilis Lougaris, Tina Hagena, Johannes Jung, Jennifer Birmelin, Likun Du, Ayse Metin, David A Webster, Alessandro Plebani, Viviana Moschese, Lennart Hammarström, Alejandro A Schäffer, Bodo Grimbacher

Published in: BMC Immunology | Issue 1/2008

Abstract

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, 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.

Conclusion

We were unable to identify obvious disease causing mutations in the protein coding regions of the analyzed genes in the studied cohort.

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Title: Screening of functional and positional candidate genes in families with common variable immunodeficiency
Authors: Ulrich Salzer
Carla Neumann
Jens Thiel
Cristina Woellner
Qiang Pan-Hammarström
Vassilis Lougaris
Tina Hagena
Johannes Jung
Jennifer Birmelin
Likun Du
Ayse Metin
David A Webster
Alessandro Plebani
Viviana Moschese
Lennart Hammarström
Alejandro A Schäffer
Bodo Grimbacher
Publication date: 01-12-2008
Publisher: BioMed Central
Published in: BMC Immunology / Issue 1/2008
Electronic ISSN: 1471-2172
DOI: https://doi.org/10.1186/1471-2172-9-3

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