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Properdin deficiency

Properdin deficiency
X-linked recessive.svg
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] Affected individuals are susceptible to fulminant meningococcal disease.

References

  1. ^ 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.



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