Article
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.
Nature genetics - 1 Oct 1998
Coffey A J, Brooksbank R A, Brandau O, Oohashi T, Howell G R, Bye J M, Cahn A P, Durham J, Heath P, Wray P, Pavitt R, Wilkinson J, Leversha M, Huckle E, Shaw-Smith C J, Dunham A, Rhodes S, Schuster V, Porta G, Yin L, Serafini P, Sylla B, Zollo M, Franco B, Bolino A, Seri M, Lanyi A, Davis J R, Webster D, Harris A, Lenoir G, de St Basile G, Jones A, Behloradsky B H, Achatz H, Murken J, Fassler R, Sumegi J, Romeo G, Vaudin M, Ross M T, Meindl A, Bentley D R
Abstract excerpt
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...
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