Nature Genetics 38, 620 - 622 (2006)
Published online: 30 April 2006; | doi:10.1038/ng1780
Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive diseaseTony Roscioli1, 2, 3, Simon T Cliffe2, Donald B Bloch4, Christopher G Bell2, Glenda Mullan2, Peter J Taylor2, Maria Sarris5, Joanne Wang6, Jennifer A Donald7, Edwin P Kirk8, 9, John B Ziegler9, 10, Ulrich Salzer11, George B McDonald6, Melanie Wong12, Robert Lindeman2, 5, 13
& Michael F Buckley1, 2, 131
Centre for Vascular Research, University of New South Wales, Sydney 2052, Australia. 2
Molecular & Cytogenetics Unit, Department of Haematology and Genetics, Prince of Wales Hospital, Sydney 2031, Australia. 3
Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, University of Sydney, Sydney 2050, Australia. 4
Center for Immunology and Inflammatory Diseases, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02129, USA. 5
School of Medical Sciences, University of New South Wales, Sydney 2052, Australia. 6
Fred Hutchinson Cancer Research Center and University of Washington Schools of Medicine & Pharmacy, Seattle, Washington 98109, USA. 7
Department of Biological Sciences, Macquarie University, Sydney 2109, Australia. 8
Department of Medical Genetics, Sydney Children's Hospital, Sydney 2031, Australia. 9
School of Women's & Children's Health, University of New South Wales, Sydney 2052, Australia. 10
Department of Immunology & Infectious Diseases, Sydney Children's Hospital, Sydney 2031, Australia. 11
Division of Rheumatology and Clinical Immunology, Medical Centre, University Hospital, Hugstetterstr. 55, 79106 Freiburg, Germany. 12
Department of Immunology and Allergy, Children's Hospital, Westmead 2145, Australia. 13
These authors contributed equally to this work.
Correspondence should be addressed to Tony Roscioli tony.roscioli@email.cs.nsw.gov.au 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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