Navigating the maze of complement genetics: a guide for clinicians.
Genetic deficiencies of nearly all of the 30 complement system proteins have been recognized clinically. In many instances, the molecular basis for the deficiency has been elucidated. As a byproduct of these studies, we now have new insights into the pathophysiologic role of complement studies in several acquired diseases. New targets for drug development are among the practical outcomes of work on complement genetics.
Colten
Harvey R
HR
Translational Research in the Faculties of Health Sciences and Medicine, Columbia University, 630 West 168th Street, New York, NY 10032, USA. hc2056@columbia.edu
D000743:Anemia, Hemolytic / Q000209:etiology / Q000235:genetics; D000799:Angioedema / Q000209:etiology / Q000235:genetics; D001424:Bacterial Infections / Q000209:etiology / Q000235:genetics; D003165:Complement System Proteins / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D004198:Disease Susceptibility; D020022:Genetic Predisposition to Disease; D017408:Guidelines as Topic; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000235:genetics; D012216:Rheumatic Diseases / Q000209:etiology / Q000235:genetics
D003165:Complement System Proteins