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

1993; Wiley; Volume: 47; Issue: 4 Linguagem: Inglês

10.1002/ajmg.1320470404

1096-8628

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

Immune Cell Function and Interaction

Abstract The Epstein‐Barr virus (EBV)‐induced diseases of males with X‐linked lymphoproliferative disease (XLP) include fatal infectious mononucleosis (IM), non‐Hodgkin lymphoma (ML), agammaglobulinemia, and 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 result 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. © 1993 Wiley‐Liss, Inc.