Linked Life Data

19388158

Source:http://linkedlifedata.com/resource/pubmed/id/19388158

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2009-4-23
pubmed:abstractText
The complement system is a powerful part of the host innate immune defense and is aimed to damage and eliminate microbes and modified self-cells. To protect host cells and biological surfaces from damage mediated by complement activation products a tight control of the complement system is necessary. Imbalances in complement regulation contribute to tissue injury and can result in autoimmune diseases such as hemolytic uremic syndrome (HUS), membranoproliferative glomerulonephritis (MPGN) or age related macular degeneration (AMD). Disease associated mutations have been identified in several complement regulators or components, such as members of the factor H protein family. This group includes the major alternative pathway regulator, complement factor H (CFH) and five complement factor H related proteins (CFHR). Homozygous chromosomal deletion of a genomic 84 kb, chromosomal fragment which includes the genes CFHR1/CFHR3 is a risk factor for hemolytic uremic syndrome (HUS) at young age and is predominantly associated with the generation of autoantibodies to CFH, leading to a specific type of HUS, called DEAP (deficiency of CFHR and autoantibody positive)-HUS. The same deletion however is protective to the development of age related macular degeneration (AMD) in elderly people. Thus CFHR1 and CFHR3 proteins, and likely also the other members of this gene family are linked to human diseases. We here summarize the current knowledge about the role or association of CFHR1 and CFHR3 in the human diseases HUS and AMD.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0264-410X
pubmed:author
pubmed:issnType
Print
pubmed:day
30
pubmed:volume
26 Suppl 8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
I9-14
pubmed:dateRevised
2010-5-20
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Complement factor H related proteins in immune diseases.
pubmed:affiliation
Department of Infection Biology, Leibniz Institute for Natural Product Research and Infection Biology, Jena, Germany. christine.skerka@hki-jena.de
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural