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Nat Genet. 1998 Oct;20(2):129-35.

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.

Author information

1
The Sanger Centre, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, UK. ajc@sanger.ac.uk

Abstract

X-linked lymphoproliferative syndrome (XLP or Duncan disease) is characterized by extreme sensitivity to Epstein-Barr virus (EBV), resulting in a complex phenotype manifested by severe or fatal infectious mononucleosis, acquired hypogammaglobulinemia and malignant lymphoma. We have identified a gene, SH2D1A, that is mutated in XLP patients and encodes a novel protein composed of a single SH2 domain. SH2D1A is expressed in many tissues involved in the immune system. The identification of SH2D1A will allow the determination of its mechanism of action as a possible regulator of the EBV-induced immune response.

PMID:
9771704
DOI:
10.1038/2424
[Indexed for MEDLINE]
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