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Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia

Recher, M. and Fried, A. J. and Massaad, M. J. and Kim, H. Y. and Rizzini, M. and Frugoni, F. and Walter, J. E. and Mathew, D. and Eibel, H. and Hess, C. and Giliani, S. and Umetsu, D. T. and Notarangelo, L. D. and Geha, R. S.. (2013) Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia. Clinical immunology, Vol. 146, H. 2. pp. 84-89.

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Official URL: http://edoc.unibas.ch/dok/A6338215

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Abstract

X-linked lymphoproliferative (XLP) disease is a primary immunodeficiency syndrome associated with the inability to control Epstein-Barr virus (EBV), lymphoma, and hypogammaglobulinemia. XLP is caused by mutations in the SH2D1A gene, which encodes the SLAM-associated protein (SAP), or in the BIRC4 gene, which encodes the X-linked inhibitor of apoptosis protein (XIAP). Here we report a patient with recurrent respiratory tract infections and early onset agammaglobulinemia who carried a unique disease-causing intronic loss-of-function mutation in SH2D1A. The intronic mutation affected SH2D1A gene transcription but not mRNA splicing, and led to markedly reduced level of SAP protein. Despite undetectable serum immunoglobulins, the patient's B cells replicated and differentiated into antibody producing cells normally in vitro.
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Immunobiology (Hess C)
03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Immunodeficiency (Recher)
UniBasel Contributors:Recher, Mike and Hess, Christoph
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Elsevier
ISSN:1090-2341
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:10 Apr 2015 09:12
Deposited On:10 Apr 2015 09:12

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