Studies on hereditary C2 deficiency: Frequent occurrence of severe infections, atherosclerosis and rheumatological manifestations

Göran Jönsson

Research output: ThesisDoctoral Thesis (compilation)

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The complement system is a part of the innate immunity and is essential in the defence against microorganisms. Hereditary C2 deficiency (C2D) is one of the most common complement deficiency states with an estimated prevalence of 1:20,000 in persons of Western descent. In the present investigation, the identification of more than 40 C2D persons at a single centre combined with long observation periods provided a unique basis for assessment of C2D-associated manifestations and diseases. The predominant clinical manifestation was severe bacterial infections. The infections were mainly caused by Streptococcus pneumoniae. Repeated infections occurred primarily during infancy and childhood. On the other hand, about 25-30 % of the C2D persons remained healthy during the observation period. Immunological factors as IgG subclass levels, GM allotypes, complement proteins, and Fc receptors were assessed to explain this difference. Homozygosity for the G2M*n allele was strongly associated with protection against severe infections (p<0.001). This indicated that an efficient antibody response to polysaccharide antigens is of great importance in C2D. Mannan-binding lectin deficiency also contributed to the susceptibility to infection. The association between C2D and systemic lupus erythematosus (SLE) was confirmed, but notably the severity of SLE in patients with C2D was similar to that of other SLE patients. Another novel finding was a high occurrence of anti-cardiolipin antibodies (aCL) and antibodies to the collagen-like region of C1q. Both autoantibodies have a pro-atherosclerotic effect that might explain the high occurrence of cardiovascular disease found in the cohort. Interestingly, anti-phospholipid syndrome was not observed despite the high occurrence of aCL. Vaccination in 25 C2D persons resulted in antibody responses which show that C2D persons benefit from vaccination against infections caused by encapsulated bacteria such as pneumococci.
Original languageEnglish
Awarding Institution
  • Division of Microbiology, Immunology and Glycobiology - MIG
  • Truedsson, Lennart, Supervisor
Award date2007 Nov 22
ISBN (Print)978-91-85897-27-8
Publication statusPublished - 2007

Bibliographical note

Defence details

Date: 2007-11-22
Time: 09:00
Place: Rune Grubbsalen, Sölvegatan 23, Lund

External reviewer(s)

Name: Wurzner, Reinhard
Title: professor
Affiliation: Dept of Hygiene, Microbiology and Social Medicine, Innsbruck Medical University, Innsbruck, Austria


<div class="article_info">Göran Jönsson, Lennart Truedsson, Gunnar Sturfelt, Vivi-Anne Oxelius, Jean-Henrik Braconier and Anders G Sjöholm. <span class="article_issue_date">2005</span>. <span class="article_title">Hereditary C2 deficiency in Sweden: frequent occurrence of invasive infection, atherosclerosis, and rheumatic disease.</span> <span class="journal_series_title">Medicine (Baltimore)</span>, <span class="journal_volume">vol 84</span> <span class="journal_pages">pp 23-34</span>.</div>
<div class="article_info">Göran Jönsson, Vivi-Anne Oxelius, Lennart Truedsson, Jean-Henrik Braconier, Gunnar Sturfelt and Anders G Sjöholm. <span class="article_issue_date">2006</span>. <span class="article_title">Homozygosity for the IgG2 subclass allotype G2M(n) protects against severe infection in hereditary C2 deficiency.</span> <span class="journal_series_title">The Journal of Immunology</span>, <span class="journal_volume">vol 177</span> <span class="journal_pages">pp 722-8</span>.</div>
<div class="article_info">Göran Jönsson, Anders G Sjöholm, Lennart Truedsson, Anders A Bengtsson, Jean-Henrik Braconier and Gunnar Sturfelt. <span class="article_issue_date">2007</span>. <span class="article_title">Rheumatological manifestations, organ damage and autoimmunity in hereditary C2 deficiency.</span> <span class="journal_series_title">Rheumatology (Oxford)</span>, <span class="journal_volume">vol 46</span> <span class="journal_pages">pp 1133-9</span>.</div>
<div class="article_info">Göran Jönsson, Eva Holmström, Barbro Selander, Vivi-Anne Oxelius, Jean-Henrik Braconier, Gunnar Sturfelt and Lennart Truedsson. <span class="article_issue_date"></span>. <span class="article_title">Vaccination against infections with encapsulated bacteria in hereditary C2 deficiency: great variation in antibody response.</span> (manuscript)</div>

Subject classification (UKÄ)

  • Immunology in the medical area
  • Microbiology in the medical area


  • transplantation
  • serology
  • Immunology
  • mykologi
  • bakteriologi
  • virologi
  • Mikrobiologi
  • mycology
  • Complement
  • Complement C2 deficiency
  • Infectious diseases
  • Atherosclerosis
  • SLE
  • Autoantibodies
  • GM allotypes
  • Immunodeficiency state
  • Medicine (human and vertebrates)
  • Medicin (människa och djur)
  • Microbiology
  • virology
  • bacteriology
  • Immunologi
  • serologi
  • Infections
  • Infektioner


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