EVALUATION OF FAMILIES WHEREIN A SINGLE MALE MANIFESTS A PHENOTYPE OFX-LINKED LYMPHOPROLIFERATIVE DISEASE (XLP)

The Epstein-Barr virus (EBV)-induced diseases of males with X-linked l ymphoproliferative disease (XLP) include fatal infectious mononucleosi s (IM), non-Hodgkin lymphoma (ML), agammaglobulinemia, and aplastic an emia. These phenotypes also occur as sporadic cases in families, and E BV seronegative males in these families must be considered at risk for XLP until they seroconvert normally to EBV. Given that 50% of males i nheriting the defective XLP gene die following primary EBV infection, it is vital that they be identified preEBV infection. Here we report r esults using molecular genetic techniques to provide information as to the relative risks of EBV negative males and potential carrier female s in ten families wherein a single male had died of IM. (C) 1993 Wiley -Liss, Inc.