This condition is inherited in an x-linked recessive manner
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]
^van den Bogaard R, Fijen CA, Schipper MG, de Galan L, Kuijper EJ, Mannens MM (July 2000). "Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies". Eur. J. Hum. Genet. 8 (7): 513–8. doi:10.1038/sj.ejhg.5200496. PMID 10909851.
^Linton, S. M.; Morgan, B. P. (November 1999). "Properdin deficiency and meningococcal disease--identifying those most at risk". Clinical and Experimental Immunology. 118 (2): 189–191. doi:10.1046/j.1365-2249.1999.01057.x. ISSN 0009-9104. PMC 1905414. PMID 10540177.
Properdindeficiency is a rare X-linked disease in which properdin, an important complement factor responsible for the stabilization of the alternative...
Properdin is a protein that in humans is encoded by the CFP (complement factor properdin) gene. Properdin is plasma glycoprotein that activates the complement...
conditions, while properdindeficiency occurs through X-linked inheritance. MBL deficiency can be inherited by either manner. Properdindeficiency is an X-linked...
complete than that of complement non-deficient persons. Inherited properdindeficiency also is related, with an increased risk of contracting meningococcal...
deficiency of an early component of complement because of the absence of recurrent pyogenic infection or features of lupus. They excluded properdin deficiency...
Factor D (EC 3.4.21.46, C3 proactivator convertase, properdin factor D esterase, factor D (complement), complement factor D, CFD, adipsin) is a protein...
convertase. The C3bBb complex is stabilized by binding oligomers of factor P (properdin). The stabilized C3 convertase, C3bBbP, then acts enzymatically to cleave...
ED, Kriel J (December 1995). "DBP (vitamin D binding protein) and BF (properdin factor B) allele distribution in Namibian San and Khoi and in other South...
cleaved by Factor D into Factor Bb. This C3bBb convertase is stabilized by properdin (Factor P) preferentially on microbial surfaces over normal host surfaces...
complement activity. Factor I deficiency in turn leads to low levels of complement component 3 (C3), factor B, factor H and properdin in blood, due to unregulated...
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