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Items: 1 to 20 of 79

1.

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.

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

PMID:
16648851
2.

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, Akatcherian C, Megarbané A, Gilissen C, Moshous D, Reichenbach J, Misbah S, Salzer U, Abinun M, Ong PY, Stepensky P, Ruga E, Ziegler JB, Wong M, Tangye SG, Lindeman R, Buckley MF, Roscioli T.

J Allergy Clin Immunol. 2012 Sep;130(3):735-742.e6. doi: 10.1016/j.jaci.2012.02.054. Epub 2012 May 21.

PMID:
22621957
3.

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. doi: 10.1016/j.clim.2012.07.016. Epub 2012 Aug 7.

PMID:
22982295
4.

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.

PMID:
17510920
5.

The role of hematopoietic stem cell transplantation in SP110 associated veno-occlusive disease with immunodeficiency syndrome.

Ganaiem H, Eisenstein EM, Tenenbaum A, Somech R, Simanovsky N, Roscioli T, Weintraub M, Stepensky P.

Pediatr Allergy Immunol. 2013 May;24(3):250-6. doi: 10.1111/pai.12051. Epub 2013 Mar 1.

PMID:
23448538
6.

Decreased IL-10 production by EBV-transformed B cells from patients with VODI: implications for the pathogenesis of Crohn disease.

Bloch DB, Nobre R, Steinbicker AU, Al-Herz W, Notarangelo LD, Recher M.

J Allergy Clin Immunol. 2012 Jun;129(6):1678-80. doi: 10.1016/j.jaci.2012.01.046. Epub 2012 Feb 16. No abstract available.

PMID:
22341038
7.

Detection of Sp110 by Flow Cytometry and Application to Screening Patients for Veno-occlusive Disease with Immunodeficiency.

Marquardsen FA, Baldin F, Wunderer F, Al-Herz W, Mikhael R, Lefranc G, Baz Z, Rezaee F, Hanna R, Kfir-Erenfeld S, Stepensky P, Meyer B, Jauch A, Bigler MB, Burgener AV, Higgins R, Navarini AA, Church JA, Chou J, Geha R, Notarangelo LD, Hess C, Berger CT, Bloch DB, Recher M.

J Clin Immunol. 2017 Oct;37(7):707-714. doi: 10.1007/s10875-017-0431-5. Epub 2017 Aug 21.

PMID:
28825155
8.

[Veno-occlusive disease of the liver associated with humoral and cellular immunodeficiency].

Manzanares López-Manzanares J, Moreno Villares JM, Medina Monzón C, Urruzuno Tellería P, Alonso González T, Medina Benítez E, Gutiérrez Junquera C, Rodríguez Peralto JL.

An Esp Pediatr. 1992 Apr;36(4):314-6. Spanish. No abstract available.

PMID:
1605421
9.

Platelet transfusion containing ABO-incompatible plasma and hepatic veno-occlusive disease after hematopoietic transplantation in young children.

Lapierre V, Mahé C, Aupérin A, Stambouli F, Oubouzar N, Tramalloni D, Benhamou E, Tiberghien P, Hartmann O.

Transplantation. 2005 Aug 15;80(3):314-9.

PMID:
16082325
10.

Hepatic venoocclusive disease in an infant following marrow grafting for severe combined immunodeficiency.

Hayward AR, Nakada P.

Transplantation. 1989 Oct;48(4):708-10. No abstract available.

PMID:
2799931
11.

Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease.

Hernandez PA, Gorlin RJ, Lukens JN, Taniuchi S, Bohinjec J, Francois F, Klotman ME, Diaz GA.

Nat Genet. 2003 May;34(1):70-4.

PMID:
12692554
12.

Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair.

Casey JP, Nobbs M, McGettigan P, Lynch S, Ennis S.

J Med Genet. 2012 Apr;49(4):242-5. doi: 10.1136/jmedgenet-2012-100803.

PMID:
22499342
13.

Veno-occlusive disease in hypereosinophilic syndrome.

Kojima K, Sasaki T.

Intern Med. 1995 Dec;34(12):1194-7.

14.

Hepatic veno-occlusive lesions in severe alcoholic hepatitis and alcoholic liver cirrhosis: a comparative histopathological study in autopsy cases.

Kishi M, Maeyama S, Ogata S, Koike J, Uchikoshi T.

Alcohol Clin Exp Res. 1999 Apr;23(4 Suppl):47S-51S.

PMID:
10235278
15.

Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.

Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara M, Suyama M, Sun Y, Lemmers RJ, de Greef JC, Gennery A, Picco P, Kloeckener-Gruissem B, Güngör T, Reisli I, Picard C, Kebaili K, Roquelaure B, Iwai T, Kondo I, Kubota T, van Ostaijen-Ten Dam MM, van Tol MJ, Weemaes C, Francastel C, van der Maarel SM, Sasaki H.

Nat Commun. 2015 Jul 28;6:7870. doi: 10.1038/ncomms8870.

16.

Serum hyaluronic acid in patients with veno-occlusive disease following bone marrow transplantation.

Fried MW, Duncan A, Soroka S, Connaghan DG, Farrand A, Peter J, Strauss RM, Boyer TD, McDonald GB.

Bone Marrow Transplant. 2001 Mar;27(6):635-9.

17.

Veno-occlusive disease of liver--a familial episode.

Shah PK, Chittora MD, Deo IN, Khangarot D, Vyas MM, Tak RS.

J Assoc Physicians India. 1987 Mar;35(3):240-2. No abstract available.

PMID:
3611010
18.
19.

Veno-occlusive disease of the liver after marrow transplantation: histological correlates of clinical signs and symptoms.

Shulman HM, Fisher LB, Schoch HG, Henne KW, McDonald GB.

Hepatology. 1994 May;19(5):1171-81.

PMID:
8175139
20.

Identification of proteins interacting with human SP110 during the process of viral infections.

Cai L, Wang Y, Wang JF, Chou KC.

Med Chem. 2011 Mar;7(2):121-6.

PMID:
21222611

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