Complement deficiency and disease: an update

Mol Immunol. 2006 Jan;43(1-2):78-85. doi: 10.1016/j.molimm.2005.06.025.

Abstract

Complement deficiencies are probably vastly under-diagnosed within clinical medicine. Judging from a Swedish study of C2 deficiency, a deficiency with an estimated prevalence of about 1/20,000 in Western countries, less than 10% of the deficiencies of the classical and alternative pathways and the late complement components are identified in Sweden. C1 inhibitor deficiency and deficiencies of MBL and MASP-2 were not included in the assessment. The introduction of new screening methods should facilitate detection of complement deficiencies in clinical practice. In our study of C2 deficiency (n=40), 57% of the patients had a history of invasive infection with encapsulated bacteria, mainly Streptococcus pneumoniae. This emphasizes the importance of the classical and/or the lectin pathway in defence against severe infection. Rheumatological disease, mainly systemic lupus erythematosus was present in 43% of the patients. In addition, a significant association was found between C2 deficiency and atherosclerosis. Complement-dependent disease mechanisms are discussed together with the potential importance of non-complement genes for disease expression in complement deficiencies. Analysis of larger patient groups is required in order to establish guidelines for investigation and treatment of patients with complement deficiency.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Atherosclerosis / epidemiology
  • Atherosclerosis / genetics
  • Atherosclerosis / immunology*
  • Atherosclerosis / therapy
  • Complement Pathway, Mannose-Binding Lectin / immunology*
  • Complement System Proteins / deficiency*
  • Complement System Proteins / immunology
  • Gram-Negative Bacterial Infections / epidemiology
  • Gram-Negative Bacterial Infections / genetics
  • Gram-Negative Bacterial Infections / immunology*
  • Gram-Negative Bacterial Infections / therapy
  • Humans
  • Lupus Erythematosus, Systemic / epidemiology
  • Lupus Erythematosus, Systemic / genetics
  • Lupus Erythematosus, Systemic / immunology*
  • Lupus Erythematosus, Systemic / therapy
  • Mannose-Binding Protein-Associated Serine Proteases / deficiency*
  • Mannose-Binding Protein-Associated Serine Proteases / immunology
  • Sweden

Substances

  • Complement System Proteins
  • MASP2 protein, human
  • Mannose-Binding Protein-Associated Serine Proteases