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

    67 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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