Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.
Coffey AJ., Brooksbank RA., Brandau O., Oohashi T., Howell GR., Bye JM., Cahn AP., Durham J., Heath P., Wray P., Pavitt R., Wilkinson J., Leversha M., Huckle E., Shaw-Smith CJ., 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 JR., Webster D., Harris A., Lenoir G., de St Basile G., Jones A., Behloradsky BH., Achatz H., Murken J., Fassler R., Sumegi J., Romeo G., Vaudin M., Ross MT., Meindl A., Bentley DR.
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.