Source:http://linkedlifedata.com/resource/pubmed/id/20346247
Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
2010-3-29
|
| pubmed:abstractText |
We describe a 10-year-old child with a novel mutation, c.352A>G/p.Thr118Ala (T89A) in the tumour necrosis factor receptor superfamily 1A (TNFRSF1A) gene. The patient presented with periodic fevers beginning at 2 years of age. He had overlapping clinical and laboratory features of tumour necrosis factor receptor-associated periodic syndrome (TRAPS) and hyper-IgD syndrome (HIDS). This patient expands the clinical and genetic spectrum of TRAPS.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:issn |
0392-856X
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
28
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
94-6
|
| pubmed:meshHeading |
pubmed-meshheading:20346247-Child,
pubmed-meshheading:20346247-Familial Mediterranean Fever,
pubmed-meshheading:20346247-Humans,
pubmed-meshheading:20346247-Male,
pubmed-meshheading:20346247-Mevalonate Kinase Deficiency,
pubmed-meshheading:20346247-Point Mutation,
pubmed-meshheading:20346247-Receptors, Tumor Necrosis Factor,
pubmed-meshheading:20346247-Receptors, Tumor Necrosis Factor, Type I
|
| pubmed:articleTitle |
A novel mutation in TNFRSF1A associated with overlapping features of tumor necrosis factor receptor-associated periodic syndrome and hyper-IgD syndrome.
|
| pubmed:affiliation |
Department of Pediatrics, University of Virginia Health System, Charlottesville, Virginia 22908, USA. fts@virginia.edu
|
| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, N.I.H., Intramural
|