Methods of detection of new families with X-linked lymphoproliferative disease

During the past decade, 240 males with X-linked lymphoproliferative disease (XLP) within 59 unrelated kindreds have been identified worldwide. One half of the patients have developed fatal infections mononucleosis, about one third have acquired hypogammaglobulinemia, and another one fourth have developed malignant lymphoma. Less commonly occurring phenotypes include hyperimmunoglobulinemia M, bone marrow hypoplasia, and necrotizing lymphoid vasculitis. The fatal infectious mononucleosis phenotype occurs at about 2.5 years of age, and median survival is only 33 days following onset of illness. The acquired hypogammaglobulinemia and malignant lymphoma phenotypes are associated with longer survivals, but to date no patient has been documented as living into the fifth decade of life. We summarized recent research findings and technological advances that permit accurate diagnosis of carrier females and detection of males with the XLP gene before Epstein-Barr virus infection.