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

Tony Roscioli; Simon T. Cliffe; Donald B. Bloch; Christopher G. Bell; Glenda Mullan; Peter J. Taylor; Maria Sarris; Joanne Wang; Jennifer A. Donald; Edwin P. Kirk; John B. Ziegler; Ulrich Salzer; George B. McDonald; Melanie Wong; Robert Lindeman; Michael F. Buckley

doi:10.1038/ng1780

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

Tony Roscioli^*, Simon T. Cliffe, Donald B. Bloch, Christopher G. Bell, Glenda Mullan, Peter J. Taylor, Maria Sarris, Joanne Wang, Jennifer A. Donald, Edwin P. Kirk, John B. Ziegler, Ulrich Salzer, George B. McDonald, Melanie Wong, Robert Lindeman, Michael F. Buckley

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

87 Citations (Scopus)

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.

Original language	English
Pages (from-to)	620-622
Number of pages	3
Journal	Nature Genetics
Volume	38
Issue number	6
DOIs	https://doi.org/10.1038/ng1780
Publication status	Published - Jun 2006

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Roscioli, T., Cliffe, S. T., Bloch, D. B., Bell, C. G., Mullan, G., Taylor, P. J., Sarris, M., Wang, J., Donald, J. A., Kirk, E. P., Ziegler, J. B., Salzer, U., McDonald, G. B., Wong, M., Lindeman, R., & Buckley, M. F. (2006). Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. Nature Genetics, 38(6), 620-622. https://doi.org/10.1038/ng1780

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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.",

author = "Tony Roscioli and Cliffe, {Simon T.} and Bloch, {Donald B.} and Bell, {Christopher G.} and Glenda Mullan and Taylor, {Peter J.} and Maria Sarris and Joanne Wang and Donald, {Jennifer A.} and Kirk, {Edwin P.} and Ziegler, {John B.} and Ulrich Salzer and McDonald, {George B.} and Melanie Wong and Robert Lindeman and Buckley, {Michael F.}",

year = "2006",

month = jun,

doi = "10.1038/ng1780",

language = "English",

volume = "38",

pages = "620--622",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Springer, Springer Nature",

number = "6",

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Roscioli, T, Cliffe, ST, Bloch, DB, Bell, CG, Mullan, G, Taylor, PJ, Sarris, M, Wang, J, Donald, JA, Kirk, EP, Ziegler, JB, Salzer, U, McDonald, GB, Wong, M, Lindeman, R & Buckley, MF 2006, 'Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease', Nature Genetics, vol. 38, no. 6, pp. 620-622. https://doi.org/10.1038/ng1780

TY - JOUR

T1 - Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease

AU - Roscioli, Tony

AU - Cliffe, Simon T.

AU - Bloch, Donald B.

AU - Bell, Christopher G.

AU - Mullan, Glenda

AU - Taylor, Peter J.

AU - Sarris, Maria

AU - Wang, Joanne

AU - Donald, Jennifer A.

AU - Kirk, Edwin P.

AU - Ziegler, John B.

AU - Salzer, Ulrich

AU - McDonald, George B.

AU - Wong, Melanie

AU - Lindeman, Robert

AU - Buckley, Michael F.

PY - 2006/6

Y1 - 2006/6

N2 - 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.

AB - 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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DO - 10.1038/ng1780

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SN - 1061-4036

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SP - 620

EP - 622

JO - Nature Genetics

JF - Nature Genetics

IS - 6

ER -

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

Abstract

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