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

@article{Roscioli2006MutationsIT,
  title={Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease},
  author={Tony Roscioli and Simon T. Cliffe and Donald B Bloch and Christopher G. Bell and Glenda L. Mullan and Peter J. Taylor and Maria Sarris and Joanne Wang and Jennifer A. Donald and Edwin P. Kirk and John B. Ziegler and Ulrich Salzer and George B. McDonald and Melanie Wong and Robert Lindeman and Michael F Buckley},
  journal={Nature Genetics},
  year={2006},
  volume={38},
  pages={620-622}
}
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… 
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