Linked Life Data

15554080

Source:http://linkedlifedata.com/resource/pubmed/id/15554080

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2004-11-19
pubmed:abstractText
Blau syndrome (MIM 186580) is a rare granulomatous disorder inherited in an autosomal dominant manner characterized by the early appearance of granulomatous arthritis, skin rash and anterior uveitis. Missense mutations in CARD15, usually on codon 334, have been described in several families with Blau syndrome. The disorder has been described as familial; here we report the first evidence of a sporadic case of Blau syndrome in a 19 year-old man with two CARD15 mutations (R334Q and G908R). His healthy mother, father and brother did not carry the R334Q mutation, which was thus considered a neo-mutation, nor did they carry the other mutation, usually found in Crohn's disease. An extensive radiologic, histologic and laboratory evaluation and a life-long clinical follow-up is available for this patient who presented skin, joint, epididimal and eye involvement.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1124-0490
pubmed:author
pubmed:issnType
Print
pubmed:volume
21
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
228-31
pubmed:dateRevised
2008-5-13
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up.
pubmed:affiliation
Cattedra di Reumatologia, Dipartimento di Terapia Medica Applicata, Università La Sapienza, Rome, Italy. rob.pri@libero.it
pubmed:publicationType
Journal Article, Case Reports