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Clin Immunol. 2013 Feb;146(2):84-9. doi: 10.1016/j.clim.2012.11.007. Epub 2012 Dec 7.

Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia.

Author information

1
Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA. rechermike@uhbs.ch

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.

PMID:
23280491
PMCID:
PMC3742382
DOI:
10.1016/j.clim.2012.11.007
[Indexed for MEDLINE]
Free PMC Article
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