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Genetic predisposit...
Genetic predisposition to infection in a case of atypical hemolytic uremic syndrome
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- Van Den Heuvel, Lambertus (author)
- Radboud University Nijmegen,University Hospitals Leuven
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- Riesbeck, Kristian (author)
- Lund University,Lunds universitet,Klinisk mikrobiologi, Malmö,Forskargrupper vid Lunds universitet,Clinical Microbiology, Malmö,Lund University Research Groups
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- El Tahir, Omaima (author)
- Amsterdam UMC - Vrije Universiteit Amsterdam
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- Gracchi, Valentina (author)
- University Medical Center Groningen
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- Kremlitzka, Mariann (author)
- Lund University,Lunds universitet,Proteinkemi, Malmö,Forskargrupper vid Lunds universitet,Protein Chemistry, Malmö,Lund University Research Groups
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- Morré, Servaas A. (author)
- Maastricht University,Amsterdam UMC - Vrije Universiteit Amsterdam
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- Van Furth, A. Marceline (author)
- Amsterdam UMC - Vrije Universiteit Amsterdam
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- Singh, Birendra (author)
- Lund University,Lunds universitet,Klinisk mikrobiologi, Malmö,Forskargrupper vid Lunds universitet,Clinical Microbiology, Malmö,Lund University Research Groups
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- Okrój, Marcin (author)
- University of Gdansk
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- Van De Kar, Nicole (author)
- Radboud University Nijmegen
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- Blom, Anna M. (author)
- Lund University,Lunds universitet,Proteinkemi, Malmö,Forskargrupper vid Lunds universitet,Protein Chemistry, Malmö,Lund University Research Groups
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- Volokhina, Elena (author)
- Radboud University Nijmegen
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(creator_code:org_t)
- 2017-11-13
- 2018
- English 4 s.
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In: Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1434-5161 .- 1435-232X. ; 63:1, s. 93-96
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Abstract
Subject headings
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- Most cases of hemolytic uremic syndrome (HUS) are caused by infection with enterohemorrhagic Escherichia coli (EHEC). Genetic defects causing uncontrolled complement activation are associated with the more severe atypical HUS (aHUS). Non-EHEC infections can trigger the disease, however, complement defects predisposing to such infections have not yet been studied. We describe a 2-month-old patient infected with different Gram-negative bacterial species resulting in aHUS. Serum analysis revealed slow complement activation kinetics. Rare variant R229C was found in complement inhibitor vitronectin. Recombinant mutated vitronectin showed enhanced complement inhibition in vitro and may have been a predisposing factor for infection. Our work indicates that genetic changes in aHUS can not only result in uncontrolled complement activation but also increase vulnerability to infections contributing to aHUS.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- genetic predisposition
- Infection
- Hemolytic uremic syndrome
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Van Den Heuvel, ...
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Riesbeck, Kristi ...
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El Tahir, Omaima
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Gracchi, Valenti ...
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Kremlitzka, Mari ...
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Morré, Servaas A ...
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show more...
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Van Furth, A. Ma ...
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Singh, Birendra
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Okrój, Marcin
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Van De Kar, Nico ...
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Blom, Anna M.
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Volokhina, Elena
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Journal of Human ...
- By the university
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Lund University