| Literature DB >> 9771704 |
A J Coffey1, R A Brooksbank, O Brandau, T Oohashi, G R Howell, J M Bye, A P Cahn, J Durham, P Heath, P Wray, R Pavitt, J Wilkinson, M Leversha, E Huckle, C J Shaw-Smith, A Dunham, S Rhodes, V Schuster, G Porta, L Yin, P Serafini, B Sylla, M Zollo, B Franco, A Bolino, M Seri, A Lanyi, J R Davis, D Webster, A Harris, G Lenoir, G de St Basile, A Jones, B H Behloradsky, H Achatz, J Murken, R Fassler, J Sumegi, G Romeo, M Vaudin, M T Ross, A Meindl, D R Bentley.
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.Entities:
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Year: 1998 PMID： 9771704 DOI： 10.1038/2424
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330