Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease

摘要: The purposes of this study were to determine the frequency mutations in SH2D1A X-linked lymphoproliferative disease (XLP) and role Epstein-Barr virus (EBV) infection determining phenotype outcome patients with XLP. Analysis 35 families from XLP Registry revealed 28 different 34 families—large genomic deletions (n = 3), small intragenic (n = 10), splice-site nonsense missense (n = 9) mutations. No found 25 males, so-called sporadic (males an after EBV but no family history XLP) or 9 chronic active syndrome. Of 304 symptomatic males Registry, 38 had evidence at first clinical manifestation. When fulminant infectious mononucleosis (FIM) was excluded, there statistical difference infectivity other phenotypes. Furthermore, age manifestation between EBV+ EBV−males survival when FIM excluded. In conclusion, it that gene are responsible for is correlation genotype outcome. It also though often results FIM, unnecessary expression manifestations XLP, correlates poorly These suggest unidentified factors, either environmental genetic (eg, modifier genes), contribute pathogenesis