Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
AJ Coffey, RA Brooksbank, O Brandau, T Oohashi… - Nature …, 1998 - nature.com
AJ Coffey, RA Brooksbank, O Brandau, T Oohashi, GR Howell, JM Bye, AP Cahn, J Durham…
Nature genetics, 1998•nature.comX-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 …
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 …
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.
nature.com