Linked Life Data

20055781

Source:http://linkedlifedata.com/resource/pubmed/id/20055781

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2010-5-24
pubmed:abstractText
Acute liver failure is a rare heterogeneous syndrome in neonates. We report of a newborn with haemophagocytic lymphohistiocytosis presenting as acute liver failure. Pancytopenia and multi-organ failure occurred later in the course. He carried two mutations of the perforin gene (PRF-1), one of which not previously described, causing a complete loss of perforin expression and natural killer cell function. Conclusion: Perforin expression and function should be promptly assessed in neonatal/infantile acute liver failure, as haemophagocytic lymphohistiocytosis requires specific treatment and represents a contra-indication to liver transplant.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1651-2227
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
99
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
778-80
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Neonatal liver failure and haemophagocytic lymphohistiocytosis caused by a new perforin mutation.
pubmed:affiliation
Department of Neonatology, Bambino Gesù Children's Hospital, Rome, Italy. olivier.danhaive@opbg.net
pubmed:publicationType
Journal Article, Case Reports