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- Title
Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.
- Authors
Roscioli, Tony; Cliffe, Simon T; Bloch, Donald B; Bell, Christopher G; Mullan, Glenda; Taylor, Peter J; Sarris, Maria; Wang, Joanne; Donald, Jennifer A; Kirk, Edwin P; Ziegler, John B; Salzer, Ulrich; McDonald, George B; Wong, Melanie; Lindeman, Robert; Buckley, Michael F
- Abstract
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.
- Publication
Nature genetics, 2006, Vol 38, Issue 6, p620
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng1780