Genetic deficiencies of the complement system: an overview

  • F. S. Rosen
Chapter
Part of the Immunology and Medicine book series (IMME, volume 20)

Abstract

Genetically determined deficiencies of the complement system have now been established for almost all the components of the system. Deficiency of the Cl-inhibitor results in hereditary angioneurotic oedema; this deficiency is discussed in Chapters 6 and 7. Infectious consequences of complement deficiency are discussed in Chapter 8. The deficiencies can be conveniently grouped according to the most prominent symptoms sustained by affected individuals. A deficiency of the proteins of the classical pathway (CI, C4 and C2) results in immune complex disease, presenting frequently as discoid or systemic lupus erythematosus, which is usually antinuclear antibody negative. Alternative pathway deficiencies (properdin and factor D) are rare; no deficiency of factor B has as yet been described. Deficiency of alternative pathway proteins predisposes to infection with Neisseria organisms. This susceptibility is also found in patients with deficiencies of the terminal components (C5, C6, C7 and C8). Patients with deficiencies of C3, factor H and factor I exhibit a broader range of susceptibility to infection, particularly with the pyogenic bacteria, in addition to infections with bacteria of Neisseria species. Finally, most individuals with C9 deficiency are asymptomatic although some reports from Japan suggest that C9 deficiency does cause an increased susceptibility to Neisseria infections. These distinctions are not firm; patients with early classical component deficiencies also have susceptibility to pyogenic infections and immune complex disease has been observed infrequently in patients with terminal complement defects.

Keywords

Systemic Lupus Erythematosus Neisseria Meningitidis Human Complement Genetic Deficiency Complement Deficiency 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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© Springer Science+Business Media Dordrecht 1993

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  • F. S. Rosen

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