Genetic deficiencies of complement.
Genetic deficiencies of proteins of the complement system are associated with diverse clinical phenotypes. These clinical manifestations vary as a function of the specific component that is missing. Molecular and cellular biological methods, coupled with more intensive clinical studies, have defined the pathophysiological basis for this set of genetic disorders. Insights into the normal function of complement and its role in immunopathology have been derived from the extensive work in this field during the past few years.
Lokki
M L
ML
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis 63110, USA.
Colten
H R
HR
D003172:Complement C1 / Q000172:deficiency; D003175:Complement C2 / Q000172:deficiency; D003176:Complement C3 / Q000172:deficiency; D003181:Complement C4 / Q000172:deficiency; D003170:Complement Pathway, Alternative; D003165:Complement System Proteins / Q000172:deficiency* / Q000235:genetics; D006801:Humans
D003172:Complement C1; D003175:Complement C2; D003176:Complement C3; D003181:Complement C4; D003165:Complement System Proteins