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Genetic Defects Affecting C3 Associated with Increased Susceptibility to Infections

Children's Hospital Medical Center, Boston, Mass.

Abstract

Since C3 occupies a crucial position in the C and properdin systems, it is understandable that defects affecting this protein produce decreased resistance to infection. We have studied three patients: 1) a 15-year-old female with homozygous deficiency of C3 whose serum C3 concentration was 1/1000th or less than normal, 2) a 27-year-old male with type I essential hypercatabolism of C3 who is homozygous for deficiency of C3 inactivator (KAF) resulting in activation of GBGase, consumption of properdin factor B, and secondary deficiencies of C3 and CVF-binding protein, and 3) a 35-year-old female with type II essential hypercatabolism of C3 who has a circulating enzyme, C3ase, that is not
, not a known component of the properdin pathway, nor a known coagulation factor. The activity of C3ase is enhanced by a protein of normal serum, C3ase cofactor.

All three patients have defective serum Cmediated functions.