University of Khartoum

Complement deficiencies: Clinical impact and diagnostic strategies

Complement deficiencies: Clinical impact and diagnostic strategies

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Title: Complement deficiencies: Clinical impact and diagnostic strategies
Author: Kirschfink, Michael
Abstract: Complement as a major component of the innate immune system has a crucial role in the protection against infections. By orchestrating the immune response, complement substantially contributes to homeostasis. However, complement may turn against healthy tissue with severe consequences if not properly controlled. Complement deficiency cases comprise about 5 to 10% of all primary immunodeficiencies. As “experiments of nature” they have significantly contributed indefining the role of complement in host defence. There is great variation in the spectrum of disorders associated with complement deficiency dependent on which complement protein and activation pathway is affected. Genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4) is often associated with autoimmune diseases, especaly with SLE due to the failure of clearance of immunecomplexes and apoptotic materials and impairment of normal humoral response. Individuals, deficient of properdin and of the terminal pathways (C5 to C9) are highly susceptible to meningococcal disease, indicating that its cytolytic property is of particular importance in the host defense against Neisseriae. Deficiency of C1 Inhibitor, either inherited (hereditary angioedema, HAE) or acquired, results in episodic angioedema. Mutations affecting the regulators factor H, factor I, or CD46 and of C3 and factor B leading to severe dysregulation of the alternative pathway have been associated with renal disorders, such as atypical hemolytic uremic syndrome (aHUS) and less frequent with membranoproliferative glomerulonephritis (MPGN). The diagnostic approach leading to the identification of a complement deficiency involves a multistep process that starts with functional screening of each activation pathway and proceeds in specialized laboratories with the characterization of the defect at functional, protein and molecular level. Careful handling and storage of blood samples is of critical importance for meaningful complement analysis. Leading international diagnostic complement laboratories have assembled for quality assurance and further development of analytical tools
URI: http://khartoumspace.uofk.edu/handle/123456789/10004
Date: 2015-02


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