| First Author | Coffey AJ | Year | 1998 |
| Journal | Nat Genet | Volume | 20 |
| Issue | 2 | Pages | 129-35 |
| PubMed ID | 9771704 | Mgi Jnum | J:50168 |
| Mgi Id | MGI:1289983 | Doi | 10.1038/2424 |
| Citation | Coffey AJ, et al. (1998) Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene [see comments]. Nat Genet 20(2):129-35 |
| abstractText | 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. |
