The X-Linked Lymphoproliferative Syndrome Registry was recently established and is funded by the National Cancer Institute. We invite referrals of possible cases of the X-linked lymphoproliferative syndrome (XLP) as well as unusual complications associated with infectious mononucleosis. The following criteria may be used to ascertain whether a case is a candidate for the registry:
1. Phenotypes1 of the proliferative types, including fatal infectious mononucleosis (IM), immunoblastic sarcoma of B cells, immunodeficiency with hyper IgM following IM, or American Burkitt lymphoma; or aproliferative phenotypes such as agranulocytosis, aplastic anemia, or acquired hypogammaglobulinemia are present.
2. Phenotypes of XLP are present in two or more maternally related males.
3. In affected males, following infection by Epstein-Barr virus (EBV), infected B cells grow spontaneously, saliva transforms cord lymphocytes, and EBV antibody is usually absent in sera.
By studying affected patients and their families, we seek to increase knowledge on the etiology and pathogenesis of XLP and ultimately to offer a basis for rational therapeutic intervention.
Please address all inquiries to David T. Purtilo, M.D., or Janet Hamilton, M.S., Registrar, Department of Pathology, University of Massachusetts Medical Center, Worcester, MA 01605, or telephone (617) 856-2439