Congenital properdin deficiency and meningococcal infection.
We report a family in which three males in two generations had meningococcal infections; one of them died. Hemolytic activity of the alternative complement pathway in the two survivors and in one healthy boy belonging to the family was reduced, as measured in a kinetic system. These three individuals had 10-11% of normal properdin concentration in plasma, as measured by a catching ELISA method, while the other complement components were normal. Hemolytic complement activity was normalized when purified properdin was added. The data are compatible with an X-linked mode of inheritance of properdin deficiency.
D003167:Complement Activation; D003170:Complement Pathway, Alternative; D003171:Complement Pathway, Classical; D006461:Hemolysis; D006801:Humans; D008297:Male; D008589:Meningococcal Infections / Q000276:immunology*; D010375:Pedigree; D011414:Properdin / Q000172:deficiency*; D014960:X Chromosome
D011414:Properdin