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Elsevier, Clinical Immunology, 2(146), p. 84-89

DOI: 10.1016/j.clim.2012.11.007

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Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia

Journal article published in 2012 by Mike Recher, Ari J. Fried, Michel J. Massaad ORCID, Hye Young Kim, Michela Rizzini, Francesco Frugoni, Jolan E. Walter, Divij Mathew, Hermann Eibel, Christoph Hess, Silvia Giliani, Dale T. Umetsu, Luigi D. Notarangelo, Raif S. Geha
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This paper is available in a repository.

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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.