Properdin deficiency: Difference between revisions
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| Name = Properdin deficiency |
| Name = Properdin deficiency |
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'''Properdin deficiency''' is a rare [[X-linked]] disease in which [[properdin]], an important [[Complement system|complement factor]], is deficient.<ref name="pmid10909851">{{cite journal |author=van den Bogaard R, Fijen CA, Schipper MG, de Galan L, Kuijper EJ, Mannens MM |title=Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies |journal=Eur. J. Hum. Genet. |volume=8 |issue=7 |pages=513–8 |year=2000 |month=July |pmid=10909851 |doi=10.1038/sj.ejhg.5200496 |url=}}</ref> Affected individuals are susceptible to [[fulminant]] [[Meningococcemia|meningococcal disease]]. |
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'''Properdin deficiency''' is a rare [[X-linked]] disease in which [[properdin]], an important [[Complement system|complement factor]], is deficient. Affected individuals are susceptible to [[fulminant]] [[Meningococcemia|meningococcal disease]]. |
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{{Lymphoid and complement immunodeficiency}} |
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Revision as of 12:39, 7 December 2010
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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
- ^ van den Bogaard R, Fijen CA, Schipper MG, de Galan L, Kuijper EJ, Mannens MM (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.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link)
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