title: Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.
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.
authors.affiliation: Centre for Vascular Research, University of New South Wales, Sydney 2052, Australia. tony.roscioli@email.cs.nsw.gov.au
authors.forename: Tony
authors.initials: T
authors.lastname: Roscioli
authors.forename: Simon T
authors.initials: ST
authors.lastname: Cliffe
authors.forename: Donald B
authors.initials: DB
authors.lastname: Bloch
authors.forename: Christopher G
authors.initials: CG
authors.lastname: Bell
authors.forename: Glenda
authors.initials: G
authors.lastname: Mullan
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Taylor
authors.forename: Maria
authors.initials: M
authors.lastname: Sarris
authors.forename: Joanne
authors.initials: J
authors.lastname: Wang
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Donald
authors.forename: Edwin P
authors.initials: EP
authors.lastname: Kirk
authors.forename: John B
authors.initials: JB
authors.lastname: Ziegler
authors.forename: Ulrich
authors.initials: U
authors.lastname: Salzer
authors.forename: George B
authors.initials: GB
authors.lastname: McDonald
authors.forename: Melanie
authors.initials: M
authors.lastname: Wong
authors.forename: Robert
authors.initials: R
authors.lastname: Lindeman
authors.forename: Michael F
authors.initials: MF
authors.lastname: Buckley
mesh_terms: D005260:Female; D006504:Hepatic Veno-Occlusive Disease / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008297:Male; D015778:Minor Histocompatibility Antigens; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree
chemical_list: D015778:Minor Histocompatibility Antigens; D009687:Nuclear Proteins; C412425:Sp110 protein, human