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

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.

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@article{Coffey1998HostRT, title={Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.}, author={A J Coffey and R A Brooksbank and O Brandau and T Oohashi and G R Howell and J M Bye and A P Cahn and J Durham and P Heath and P Wray and R Pavitt and J Wilkinson and M Leversha and E Huckle and C J Shaw-Smith and A Dunham and S Rhodes and V Schuster and G Porta and L Yin and P Serafini and B Sylla and M Zollo and B Franco and A Bolino and M Seri and A Lanyi and J R Davis and D Webster and A Harris and G Lenoir and G de St Basile and A Jones and B H Behloradsky and H Achatz and J Murken and R Fassler and J Sumegi and G Romeo and M Vaudin and M T Ross and A Meindl and D R Bentley}, journal={Nature genetics}, year={1998}, volume={20 2}, pages={129-35} }