Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease

Tony Roscioli*, Simon T. Cliffe, Donald B. Bloch, Christopher G. Bell, Glenda Mullan, Peter J. Taylor, Maria Sarris, Joanne Wang, Jennifer A. Donald, Edwin P. Kirk, John B. Ziegler, Ulrich Salzer, George B. McDonald, Melanie Wong, Robert Lindeman, Michael F. Buckley

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

64 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)620-622
Number of pages3
JournalNature Genetics
Volume38
Issue number6
DOIs
Publication statusPublished - Jun 2006

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