Properdin deficiency: Difference between revisions
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== Introduction == |
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'''Properdin deficiency''' is a rare [[X-linked]] disease in which [[properdin]], an important [[Complement system|complement factor]] responsible for the stabilization of the alternative C3 convertase, is deficient.<ref name="pmid10909851">{{cite journal |vauthors=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 |date=July 2000 |pmid=10909851 |doi=10.1038/sj.ejhg.5200496 |doi-access=free }}</ref> |
'''Properdin deficiency''' is a rare [[X-linked]] disease in which [[properdin]], an important [[Complement system|complement factor]] responsible for the stabilization of the alternative C3 convertase, is deficient.<ref name="pmid10909851">{{cite journal |vauthors=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 |date=July 2000 |pmid=10909851 |doi=10.1038/sj.ejhg.5200496 |doi-access=free }}</ref> One of the first studied cases of properdin deficiency was in 1980 by [https://pubmed.ncbi.nlm.nih.gov/6903190/ Davis and Forrestal].<ref name=":0">{{Cite web |title=OMIM Entry |
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- # 312060 - PROPERDIN DEFICIENCY, X-LINKED; CFPD |url=https://www.omim.org/entry/312060 |access-date=2022-03-23 |website=www.omim.org |language=en-us}}</ref> These families had members with only partial deficiencies which resulted in a lowered consumption of the [[Complement component 3|C3]] protein.<ref name=":0" /> Properdin deficiency was studied again shortly after in 1982 by [https://pubmed.ncbi.nlm.nih.gov/7151327/ Sjoholm] in which all of the subjects were deceased shortly after the study because of their disease.<ref name=":0" /> The largest study of properdin deficiency was in 1989 by [https://www.omim.org/entry/312060#6 Fijen] which included 9 males across 3 generations.<ref name=":0" /> Out of the 46 family members in [https://www.omim.org/entry/312060#6 Fijen's] study, the 9 who were affected were found to be more susceptible to [[fulminant]] [[Meningococcemia|meningococcal disease]].<ref name=":0" /> |
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==References== |
==References== |
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Revision as of 20:13, 23 March 2022
Introduction
| Properdin deficiency | |
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| 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] One of the first studied cases of properdin deficiency was in 1980 by Davis and Forrestal.[2] These families had members with only partial deficiencies which resulted in a lowered consumption of the C3 protein.[2] 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.[2] The largest study of properdin deficiency was in 1989 by Fijen which included 9 males across 3 generations.[2] Out of the 46 family members in Fijen's study, the 9 who were affected were found to be more susceptible to fulminant meningococcal disease.[2]
References
- ^ 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.
- ^ a b c d e "OMIM Entry - # 312060 - PROPERDIN DEFICIENCY, X-LINKED; CFPD". www.omim.org. Retrieved 2022-03-23.
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External links
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