Properdin deficiency

Properdin deficiency
Classification and external resources
ICD-10 pp
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

  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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