Epstein-Barr virus-induced diseases in boys with the X-linked lymphoproliferative syndrome (XLP). Update on studies of the registry

David T. Purtilo, Kiyoshi Sakamoto, Vanessa Barnabei, Janet Seeley, Thomas Bechtold, Geraldine Rogers, Joanne Yetz, Shinji Harada, Izet Berkel, Carter Brooks, George Bucchanan, Robert Collins, Frank Cruzi, Gerald Finkelstein, Anders Glomstein, John Greally, Margaret Grunet, Gertrude Henle, Werner Henle, Elvin KaplanGeorge Klein, Martin Klemperer, Benjamin Landing, Sevre Lie, Robert Maier, Helen S. Maurer, Michael Medici, Hans Ochs, Lauren Pachman, Paul Pattengale, Gary Pearson, Arthur Provisor, Gordon Vawter

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144 Scopus citations


Analyses of 100 subjects with the X-linked lymphoproliferative syndrome (XLP) in 25 kindreds revealed four major interrelated phenotypes: infectious mononucleosis, malignant B-cell lymphoma, aplastic anemia, and hypogammaglobulinemia. Eighty-one of the patients died. Two male subjects were asymptomatic but showed immunodeficiency to Epstein-Barr virus (EBV). Seventy-five subjects had the infectious mononucleosis phenotype and concurrently, 17 subjects of this group had aplastic anemia. All subjects with aplastic anemia died within a week. Aplastic anemia did not accompany hypogammaglobulinemia or malignant lymphoma phenotypes. Hypogammaglobulinemia had been detected before infectious mononucleosis in three subjects, after infectious mononucleosis in five subjects, and was not associated with infectious mononucleosis in 11 boys with hypogammaglobulinemia. In nine subjects infectious mononucleosis appeared to have evolved into malignant lymphoma; however, the majority of patients with malignant lymphoma showed no obvious antecedent infectious mononucleosis. One subject had infectious mononucleosis following recurrent malignant lymphoma. Twenty-six of 35 lymphomas were in the terminal ileum. Results of immunologic and virologic studies of 15 survivors revealed combined variable immunodeficiency and deficient antibody responses to EBV-speciflc antigens. Mothers of boys with XLP exhibited abnormally elevated titers of antibodies to EBV. Subjects of both sexes with phenotypes of XLP should be investigated for immunodeficiency to EBV. Persons with inherited or acquired immunodeficiency may be vulnerable to life-threatening EBV-induced diseases.

Original languageEnglish
Pages (from-to)49-56
Number of pages8
JournalAmerican Journal of Medicine
Issue number1
StatePublished - Jul 1982


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