Properdin deficiency
Medical condition / From Wikipedia, the free encyclopedia
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Properdin deficiency is a rare X-linked disease in which properdin, an important complement factor responsible for the stabilization of the alternative C3 convertase, is deficient.[1] There are three forms of properdin deficiencies: Type I, which is identified by the total absence of the properdin protein in the plasma, Type II, which is a low but detectable amount of the properdin protein in the plasma, and Type III, which is a rare case of normal levels of properdin protein, but a dysfunctional variant.[2] One of the first studied cases of properdin deficiency was in 1980 by Davis and Forrestal.[3] These families had members with only partial deficiencies which resulted in a lowered consumption of the C3 protein.[3] Properdin deficiency was studied again shortly after in 1982 by Sjoholm in which all of the subjects were deceased shortly after the study because of their disease.[3] The largest study of properdin deficiency was in 1989 by Fijen which included nine males across three generations.[3] Out of the 46 family members in Fijen's study, the 9 who were affected were found to be more susceptible to diseases from the Neisseria genus.[3]