Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease.

The purposes of this study were to determine the frequency of mutations in SH2D1A in X-linked lymphoproliferative disease (XLP) and the role of SH2D1A mutations and Epstein-Barr virus (EBV) infection in determining the phenotype and outcome of patients with XLP. Analysis of 35 families from the XLP Registry revealed 28 different mutations in 34 families-large genomic deletions (n = 3), small intragenic deletions (n = 10), splice-site (n = 3), nonsense (n = 3), and missense (n = 9) mutations. No mutations were found in 25 males, so-called sporadic XLP (males with an XLP phenotype after EBV infection but no family history of XLP) or in 9 patients with chronic active EBV syndrome.

A yeast artificial chromosome (YAC) contig encompassing the critical region of the X-linked lymphoproliferative disease (XLP) locus.

X-linked lymphoproliferative disease (XLP) is characterized by a marked vulnerability to Epstein-Barr virus (EBV) infection. Infection of XLP patients with EBV invariably results in fatal mononucleosis, agammaglobulinemia, or malignant lymphoma. Initially the XLP gene was assigned to a 10-cM region in Xq25 between DXS42 and DXS37.

Simple assay for evaluation of Epstein-Barr virus specific cytotoxic T lymphocytes.

Epstein-Barr virus (EBV)-specific cytotoxic T lymphocytes (CTL) are considered to be one of major defenses against the activation of EBV infection. We have developed a simple assay for evaluation of EBV-CTL by means of culturing peripheral blood mononuclear cells at the concentration of 2 x 10(6) cells/ml infected by B95-8 EBV, in the presence or absence of cyclosporin A (CSA). No lymphoblastoid cell line was established from ten EBV-seropositive healthy individuals in the absence of CSA.