Detection of Sp110 by Flow Cytometry and Application to Screening Patients for Veno-occlusive Disease with Immunodeficiency-Reference-Cited by-同舟云学术

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

Published:2017-08-21 Issue:7 Volume:37 Page:707-714
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Marquardsen Florian A.,Baldin Fabian,Wunderer Florian,Al-Herz Waleed,Mikhael Raymond,Lefranc Gérard,Baz Zeina,Rezaee Fariba,Hanna Rabi,Kfir-Erenfeld Shlomit,Stepensky Polina,Meyer Benedikt,Jauch Annaise,Bigler Marc B.,Burgener Anne-Valérie,Higgins Rebecca,Navarini Alexander A.,Church Joeseph A.,Chou Janet,Geha Raif,Notarangelo Luigi D.,Hess Christoph,Berger Christoph T.,Bloch Donald B.,Recher Mike

Funder

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

http://link.springer.com/article/10.1007/s10875-017-0431-5/fulltext.html

Reference14 articles.

1. Mellis C, Bale PM. Familial hepatic venoocclusive disease with probable immune deficiency. J Pediatr. 1976;88:236–42.

2. Roscioli T, et al. Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. Nat Genet. 2006;38:620–2.

3. Roscioli, T., Ziegler, J.B., Buckley, M. & Wong, M. Hepatic veno-occlusive disease with immunodeficiency. In: Pagon RA, et al., editors. GeneReviews(R). Seattle; 1993).

4. Cliffe ST, et al. Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome. J Allergy Clin Immunol. 2012;130:735–742.e6.

5. Ganaiem H, et al. The role of hematopoietic stem cell transplantation in SP110 associated veno-occlusive disease with immunodeficiency syndrome. Pediatr Allergy Immunol. 2013;24:250–6.

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