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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80 Citations

Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome.
Novel Missense Mutation inSP110Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD
TLDR
A second patient is described with a novel missense mutation in the SP110 gene and a clinical phenotype consistent with VODI, a currently 10-year-old boy who was born at term to healthy consanguineous parents of Pakistani origin.
The first prenatal diagnosis for veno‐occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110
TLDR
The first prenatal diagnosis of familial hepatic veno‐occlusive disease with immunodeficiency (VODI) is presented, with a baby presented at three months of age with hepatomegaly hepatic failure and found to have hypogammaglobulinemia.
Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency
TLDR
It is important to have a high suspicion for this disease, in patients presenting early life with a picture of CID and deranged liver function, as the earlier the diagnosis and treatment, the better the prognosis.
Hepatic veno-occlusive disease with immunodeficiency (VODI): first reported case in the U.S. and identification of a unique mutation in Sp110.
Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy
TLDR
A modifier gene, SP110 nuclear body protein (SP110), is identified, which strongly affects overall disease risk and age of onset in Pembroke Welsh Corgis at risk for DM, and variations in SP110-mediated gene transcription may underlie variability in risk for developing DM among PWCs that are homozygous for the disease-related SOD1 mutation.
The role of Sp110 in human T cell apoptosis and immunopathology
TLDR
It is suggested that Sp110 deficient T cells fail to undergo re-stimulation induced apoptosis while secreting non-regulated amounts of interferon-γ, which likely explains the particular susceptibility of VODI patients to pneumocystis pneumonia and identifies Sp110 as an essential immune regulatory protein in diseases associated with augmented IFN-I formation.
Well-Known Combined Immune Deficiency Syndromes
The role of hematopoietic stem cell transplantation in SP110 associated veno‐occlusive disease with immunodeficiency syndrome
TLDR
A new group of patients with VODI is described highlighting further clinical and immunologic aspects of this disease and re‐evaluating the effectiveness of HSCT for the treatment of this disorder.
The Role of ND10 Nuclear Bodies in Herpesvirus Infection: A Frenemy for the Virus?
TLDR
Light is shed on the explicit role of ND10 in both the lytic and latent cycles of herpesvirus infection, which is imperative to the delineation of herpes pathogenesis and the development of prophylactic/therapeutic treatments for herpetic diseases.
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TLDR
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