Properdin deficiency

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Properdin deficiency
Classification and external resources
OMIM 312060

Properdin deficiency is a rare X-linked disease in which properdin, an important complement factor, is deficient.[1] Affected individuals are susceptible to fulminant meningococcal disease.

References[edit]

  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.