Linked Life Data

15657603

Source:http://linkedlifedata.com/resource/pubmed/id/15657603

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2005-3-24
pubmed:abstractText
The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) is an autosomal recessively inherited autoinflammatory disease caused by mutations in the mevalonate kinase (MVK) gene on chromosome 12q24, which lead to a depressed enzymatic activity of mevalonate kinase (MK). TNF-receptor associated periodic syndrome (TRAPS), on the other hand, is the most frequent autosomal dominantly inherited periodic fever syndrome due to mutations in exons 2-4 and 6 of the TNFRSF1A gene on chromosome 12p13.2. We describe a girl with heterozygosity for the common MVK V377I mutation and for a novel T(1132) --> C transition, leading to the exchange of serine (TCC) by proline (CCC) at amino-acid position 378. Interestingly, our patient presented only with mild clinical features typical of HIDS and slightly increased immunoglobulin D levels, but a distinctly diminished MK activity. The girl was also heterozygous for the TNFRSF1A R92Q low-penetrance mutation, which may have significant proinflammatory effects. However, at the time of presentation, the patient had no TRAPS-associated symptoms.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1018-4813
pubmed:author
pubmed:issnType
Print
pubmed:volume
13
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
510-2
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation.
pubmed:affiliation
Department of Infectious Diseases and Immunology, Children's Hospital, University of Munich, Germany. florian.hoffmann@med.uni-muenchen.de
pubmed:publicationType
Journal Article, Case Reports