Nat Genet. 2006 Jun;38(6):620-2. Epub 2006 Apr 30.

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

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.

Source

Centre for Vascular Research, University of New South Wales, Sydney 2052, Australia. tony.roscioli@email.cs.nsw.gov.au

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.

PMID:: 16648851; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome. [J Allergy Clin Immunol. 2012]
Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome.
Cliffe ST, Bloch DB, Suryani S, Kamsteeg EJ, Avery DT, Palendira U, Church JA, Wainstein BK, Trizzino A, Lefranc G, et al. J Allergy Clin Immunol. 2012 Sep; 130(3):735-742.e6. Epub 2012 May 21.
The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110. [Prenat Diagn. 2007]
The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110.
Cliffe ST, Wong M, Taylor PJ, Ruga E, Wilcken B, Lindeman R, Buckley MF, Roscioli T. Prenat Diagn. 2007 Jul; 27(7):674-6.
Hepatic veno-occlusive disease with immunodeficiency (VODI): first reported case in the U.S. and identification of a unique mutation in Sp110. [Clin Immunol. 2012]
Hepatic veno-occlusive disease with immunodeficiency (VODI): first reported case in the U.S. and identification of a unique mutation in Sp110.
Wang T, Ong P, Roscioli T, Cliffe ST, Church JA. Clin Immunol. 2012 Nov; 145(2):102-7. Epub 2012 Aug 7.
Review Autosomal-dominant primary immunodeficiencies. [Curr Opin Hematol. 2005]
Review Autosomal-dominant primary immunodeficiencies.
Lawrence T, Puel A, Reichenbach J, Ku CL, Chapgier A, Renner E, Minard-Colin V, Ouachée M, Casanova JL. Curr Opin Hematol. 2005 Jan; 12(1):22-30.
Review [Cartilage-hair hypoplasia]. [Orv Hetil. 2008]
Review [Cartilage-hair hypoplasia].
Erdos M, Tóth B, Almássy Z, Tímár L, Maródi L. Orv Hetil. 2008 Feb 3; 149(5):209-17.

See reviews... See all...

Cited by 4 PubMed Central articles

Review Forward genetic dissection of innate response to infection in inbred mouse strains: selected success stories. [Clin Exp Immunol. 2010]
Review Forward genetic dissection of innate response to infection in inbred mouse strains: selected success stories.
Gruenheid S, Gros P. Clin Exp Immunol. 2010 Dec; 162(3):393-401.
Review PHD finger of autoimmune regulator: an epigenetic link between the histone modifications and tissue-specific antigen expression in thymus. [Epigenetics. 2008]
Review PHD finger of autoimmune regulator: an epigenetic link between the histone modifications and tissue-specific antigen expression in thymus.
Musco G, Peterson P. Epigenetics. 2008 Nov; 3(6):310-4. Epub 2008 Nov 14.
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. [J Allergy Clin Immunol. 2007]
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarström L, Nonoyama S, Ochs HD, Puck JM, et al. J Allergy Clin Immunol. 2007 Oct; 120(4):776-94.

See all...

Recent activity

Clear Turn Off Turn On

Mutations in the gene encoding the PML nuclear body protein Sp110 are associated...
Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.
Nat Genet. 2006 Jun ;38(6):620-2. Epub 2006 Apr 30 .

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: