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01-01-2020 | Immunodeficiency | Letter to Editor

Novel Missense Mutation in SP110 Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD

Authors: Ottavia M. Delmonte, Fabian Baldin, Nadia Ovchinsky, Florian Marquardsen, Mike Recher, Luigi D. Notarangelo, Slawomir M. Kosinski

Published in: Journal of Clinical Immunology | Issue 1/2020

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To the Editor: …

Roscioli T, Cliffe ST, Bloch DB, Bell CG, Mullan G, Taylor PJ, 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.CrossRef

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;130:735–42.CrossRef

Wang T, Ong P, Roscioli T, Cliffe ST, Church JA. Hepatic venoocclusive disease with immunodeficiency (VODI): first reported case in the U.S. and identification of a unique mutation in Sp110. Clin Immunol. 2012;145:102–7.CrossRef

Ganaiem H, Eisenstein EM, Tenenbaum A, Somech R, Simanovsky N, Roscioli T, 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.CrossRef

Bloch DB, et al. Sp110 localizes to the PML-Sp110 nuclear body and may function as a nuclear hormone receptor transcriptional coactivator. Mol Cell Biochem. 2000;20:6138–46.CrossRef

Marquardsen FA, Baldin F, Wunderer F, al-Herz W, Mikhael R, Lefranc G, et al. Detection of Sp110 by flow cytometry and application to screening patients for veno-occlusive disease with immunodeficiency. J Clin Immunol. 2017;37(7):707–14.CrossRef

Scheffer DI, Shen J, Corey DP, Chen ZY. Gene expression by mouse inner ear hair cells during development. J Neurosci. 2015;35(16):6366–80.CrossRef

Title: Novel Missense Mutation in SP110 Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD
Authors: Ottavia M. Delmonte
Fabian Baldin
Nadia Ovchinsky
Florian Marquardsen
Mike Recher
Luigi D. Notarangelo
Slawomir M. Kosinski
Publication date: 01-01-2020
Publisher: Springer US
Keyword: Immunodeficiency
Published in: Journal of Clinical Immunology / Issue 1/2020
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-019-00715-3

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