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Complement Component C2 Deficiency

Encyclopedia of Medical Immunology

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Definition

C2 deficiency is a relatively common complement deficiency with an estimated prevalence of 1/20,000 in the Caucasian population. In the great majority of cases, the deficiency is caused by homozygosity for a 28-base pair deletion in the C2 gene, which is located in the MHC haplotype HLA-B*18, S042, DRB1*15. Major disease associations are increased susceptibility for infections with encapsulated bacteria, development of SLE or SLE-like disease, and slightly increased risk for atherosclerosis. The SLE disease is generally mild with skin symptoms and the autoantibody profile differs from that in SLE in general since positivity for anti-dsDNA antibodies is rare. From the prevalence it is concluded that many CD2 individuals are apparently healthy. A probable explanation is that complement activation may go through bypass mechanisms involving C1q or MBL, C4, and the alternative pathway. In addition C2D individuals show good response in antibody production after vaccination...

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Authors and Affiliations

  1. Department of Rheumatology, University Hospital of Skåne, 22185, Lund, Sweden

    Gunnar Sturfelt

  2. Dept. of Laboratory Medicine, Section of Microbiology, Immunology and Glycobiology, Lund University, 22185, Lund, Sweden

    Lennart Truedsson

Authors
  1. Gunnar Sturfelt
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  2. Lennart Truedsson
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Correspondence to Gunnar Sturfelt .

Editor information

Editors and Affiliations

  1. Molecular Biology, Monash University Dept. Biochemistry &, Clayton, Victoria, Australia

    Ian MacKay

  2. Autoimmune Disease Research Center, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

    Noel R. Rose

Section Editor information

  1. University of Pennsylvania, PA 19104, Philadelphia, USA

    Kathleen Sullivan

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Sturfelt, G., Truedsson, L. (2016). Complement Component C2 Deficiency. In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_10-1

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  • DOI: https://doi.org/10.1007/978-1-4614-9209-2_10-1

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  • Print ISBN: 978-1-4614-9209-2

  • Online ISBN: 978-1-4614-9209-2

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Chapter history

  1. Latest

    Complement Component C2 Deficiency
    Published:
    22 February 2018

    DOI: https://doi.org/10.1007/978-1-4614-9209-2_10-2

  2. Original

    Complement Component C2 Deficiency
    Published:
    09 August 2017

    DOI: https://doi.org/10.1007/978-1-4614-9209-2_10-1

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