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

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

Affiliation

  • 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.

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