Inherited disorders of complement.
Isolated complement component deficiencies are uncommon. Deficiencies of all eleven components and two inhibitors of the classical pathway have been described. Complete absence of the components of the alternative pathway has not been described. The consequences of a single defect in complement are often predictable from an understanding of the biologic activities associated with activation of the complement system. Deficiency of C1 esterase inhibitor gives rise to the disease, hereditary angioedema; deficiency of the early components of the classical pathway are associated with lupus erythematosus; C3 and C3 inactivator deficiencies with pyogenic infections; C5 dysfunction with Leiner's disease; deficiencies of the terminal components with recurrent Neisseria bacteremia; and C9 deficiency with normal health. The complement system and its associated biologic activities are reviewed. The present knowledge of the inherited complement deficiencies and associated diseases, with particular emphasis on the dermatologic manifestations, genetics, and diagnosis, is summarized.
D000799:Angioedema / Q000235:genetics; D003166:Complement Activating Enzymes / Q000172:deficiency; D003174:Complement C1 Inactivator Proteins / Q000172:deficiency; D015922:Complement C1q; D015923:Complement C1r; D003173:Complement C1s; D003180:Complement C3b Inactivator Proteins / Q000172:deficiency; D003170:Complement Pathway, Alternative; D003171:Complement Pathway, Classical; D003165:Complement System Proteins / Q000172:deficiency* / Q000235:genetics; D003873:Dermatitis, Exfoliative / Q000235:genetics; D005260:Female; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics; D008297:Male; D011110:Polymorphism, Genetic
D003174:Complement C1 Inactivator Proteins; D003180:Complement C3b Inactivator Proteins; D015922:Complement C1q; D003165:Complement System Proteins; D003166:Complement Activating Enzymes; D015923:Complement C1r; D003173:Complement C1s