Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.
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.
Roscioli
Tony
T
Centre for Vascular Research, University of New South Wales, Sydney 2052, Australia. tony.roscioli@email.cs.nsw.gov.au
Cliffe
Simon T
ST
Bloch
Donald B
DB
Bell
Christopher G
CG
Mullan
Glenda
G
Taylor
Peter J
PJ
Sarris
Maria
M
Wang
Joanne
J
Donald
Jennifer A
JA
Kirk
Edwin P
EP
Ziegler
John B
JB
Salzer
Ulrich
U
McDonald
George B
GB
Wong
Melanie
M
Lindeman
Robert
R
Buckley
Michael F
MF
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
D015778:Minor Histocompatibility Antigens; D009687:Nuclear Proteins; C412425:Sp110 protein, human