Evaluation of families wherein a single male manifests a phenotype of X-linked lymphoproliferative disease (XLP)

✍ Scribed by Grierson, Helen L. ;Skare, James ;Church, Joseph ;Silberman, Teresa ;Davis, Jack R ;Kobrinsky, Nathan ;McGregor, Rebert ;Israels, Sara ;McCarty, James ;Andrews, Lucy G. ;Blecha, Timothy ;Erdman, Steve ;Obringer, Angela ;Scharnhorst, David ;Purtilo, David T.

• Book ID: 102703445
• Publisher: John Wiley and Sons
• Year: 1993
• Tongue: English
• Weight: 510 KB
• Volume: 47
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320470404

✦ Synopsis

The Epstein-Barr virus (EBVbinduced diseases of males with X-linked lymphoproliferative disease (XLP) include fatal infectious mononucleosis (IM), non-Hodgkin lymphoma (ML), agammaglobulinemia, a n d aplastic anemia. These phenotypes also occur as sporadic cases in families, and EBV seronegative males in these families must be considered at risk for XLP until they seroconvert normally to EBV.

Given that 50% of males inheriting the defective XLP gene die following primary EBV infection, it is vital that they be identified pre-EBV infection. Here we report results using molecular genetic techniques to provide information as to the relative risks of EBV negative males and potential carrier females in ten families wherein a single male had died of IM.