Linked Life Data

20669551

Source:http://linkedlifedata.com/resource/pubmed/id/20669551

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2010-7-30
pubmed:abstractText
Hereditary recurrent fevers are rare genetic diseases characterized by febrile periods of variable duration. Classically, four such diseases were recognized, namely familial Mediterranean fever (previously called periodic disease in France), the Muckle-Wells syndrome, Hibernian fever, and hyper IgD with recurrent fever. The discovery of culprit genes has led to an overhaul of this classification. Molecular diagnosis of these diseases, that are difficult to identify on clinical grounds alone, is now possible. Timely diagnosis is particularly important as, in the absence of treatment, there is a risk of secondary AA amyloidosis, which is fatal within 5 to 10 years. The discovery of underlying genetic mechanisms has also led to the development of new therapeutic approaches, which are currently being tested in clinical trials.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0001-4079
pubmed:author
pubmed:issnType
Print
pubmed:volume
193
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1873-83; discussion 1883-4
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
[From hereditary recurrent fevers to autoinflammatory syndromes: the contribution of genetics].
pubmed:affiliation
Laboratoire de biochimie et génétique moléculaire, APHP Hôpital Cochin, 123 bd de Port Royal, 75014 Paris. marc.delpech@inserm.fr
pubmed:publicationType
Journal Article, English Abstract