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Brief Communication

Nature Genetics 38, 620–622 (1 June 2006) | doi:10.1038/ng1780

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

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.