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231223s2009 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2009.02.008
|2 doi
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|a pubmed25n0625.xml
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|a (DE-627)NLM187483175
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|a (NLM)19328743
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|a DE-627
|b ger
|c DE-627
|e rakwb
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| 041 |
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|a eng
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| 100 |
1 |
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|a Schejbel, Lone
|e verfasserin
|4 aut
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| 245 |
1 |
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|a Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome
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| 264 |
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|c 2009
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| 336 |
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
|b c
|2 rdamedia
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| 338 |
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|a ƒa Online-Ressource
|b cr
|2 rdacarrier
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| 500 |
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|a Date Completed 09.06.2009
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|a Date Revised 19.11.2015
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Properdin is an initiator and stabilizer of the alternative complement activation pathway (AP). Deficiency of properdin is a rare X-linked condition characterized by increased susceptibility to infection with Neisseria meningitidis associated with a high mortality rate. We report properdin deficiency in a large Pakistani family. The index cases were found by screening for immunodeficiency due to a history of recurrent infections. This revealed absent AP activity, but normal classical and lectin pathway activity. Sequencing of the properdin gene (PFC) revealed a novel frameshift mutation. When all available relatives (n=24) were screened for the mutation, four affected males, four female carriers and a male heterozygous carrier were identified. He was subsequently diagnosed with Klinefelter syndrome. A questionnaire revealed a striking association between properdin deficiency and recurrent otitis media (P=0.0012), as well as recurrent pneumonia (P=0.0017). This study is the first to show a significant association between properdin deficiency and recurrent infections
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|a Case Reports
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|a Journal Article
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|a Research Support, Non-U.S. Gov't
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| 650 |
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7 |
|a Properdin
|2 NLM
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| 650 |
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|a 11016-39-0
|2 NLM
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| 700 |
1 |
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|a Rosenfeldt, Vibeke
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Marquart, Hanne
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Valerius, Niels Henrik
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Garred, Peter
|e verfasserin
|4 aut
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| 773 |
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|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 131(2009), 3 vom: 15. Juni, Seite 456-62
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
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| 773 |
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|g volume:131
|g year:2009
|g number:3
|g day:15
|g month:06
|g pages:456-62
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| 856 |
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|u http://dx.doi.org/10.1016/j.clim.2009.02.008
|3 Volltext
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