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

  • Nat Genet. 2006 Jun;38(6):620-2. doi: 10.1038/ng1780.
Tony Roscioli  1 ,  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
Affiliations
  • 1. Centre for Vascular Research, University of New South Wales, Sydney 2052, Australia. [email protected]
PMID: 16648851 DOI: 10.1038/ng1780
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.