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rdf:type |
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lifeskim:mentions |
|
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pubmed:issue |
6
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pubmed:dateCreated |
2006-5-31
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pubmed:abstractText |
We describe mutations in the PML nuclear body protein Sp110 in the syndrome veno-occlusive disease with immunodeficiency, an autosomal recessive disorder of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. This is the first report of the involvement of a nuclear body protein in a human primary immunodeficiency and of high-penetrance genetic mutations in hepatic veno-occlusive disease.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
|
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1061-4036
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pubmed:author |
pubmed-author:BellChristopher GCG,
pubmed-author:BlochDonald BDB,
pubmed-author:BuckleyMichael FMF,
pubmed-author:CliffeSimon TST,
pubmed-author:DonaldJennifer AJA,
pubmed-author:HUBERH PHP,
pubmed-author:KirkEdwin PEP,
pubmed-author:LindemanRobertR,
pubmed-author:McDonaldGeorge BGB,
pubmed-author:MullanGlendaG,
pubmed-author:RoscioliTonyT,
pubmed-author:SarrisMariaM,
pubmed-author:TaylorPeter JPJ,
pubmed-author:WangJoanneJ,
pubmed-author:WongMelanieM,
pubmed-author:ZieglerJohn BJB
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pubmed:issnType |
Print
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pubmed:volume |
38
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pubmed:owner |
NLM
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|
pubmed:authorsComplete |
Y
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pubmed:pagination |
620-2
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
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pubmed:year |
2006
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pubmed:articleTitle |
Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.
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pubmed:affiliation |
Centre for Vascular Research, University of New South Wales, Sydney 2052, Australia. tony.roscioli@email.cs.nsw.gov.au
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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