title: Report on the X-linked lymphoproliferative disease in an Australian family.
abstract: X-linked lymphoproliferative disease is characterized by immune deficiency, particularly to the Epstein-Barr virus and by a tendency to develop fatal infectious mononucleosis, acquired hypogammaglobulinaemia or malignant lymphoma. This disorder has been diagnosed in three boys, two brothers and a maternally related cousin, residing in Australia. The proband presented at 6 years of age with fulminating infectious mononucleosis. His 9 year old male cousin had developed an ileal Burkitt lymphoma one year earlier. Immunological and molecular genetic evidence is presented to support our view that his younger sibling is also affected with this condition. DNA linkage studies using probes to DXS10 and DXS37 provide confirmatory evidence for the diagnosis in the proband's brother and information on carrier status in female family members.
authors.affiliation: Department of Medical Genetics, Prince of Wales Children's Hospital, Randwick, New South Wales, Australia.
authors.forename: A M
authors.initials: AM
authors.lastname: Turner
authors.forename: V A
authors.initials: VA
authors.lastname: Berdoukas
authors.forename: V H
authors.initials: VH
authors.lastname: Tobias
authors.forename: J B
authors.initials: JB
authors.lastname: Ziegler
authors.forename: I R
authors.initials: IR
authors.lastname: Toogood
authors.forename: J C
authors.initials: JC
authors.lastname: Mulley
authors.forename: J
authors.initials: J
authors.lastname: Skare
authors.forename: D T
authors.initials: DT
authors.lastname: Purtilo
mesh_terms: D000361:Agammaglobulinemia / Q000150:complications; D002051:Burkitt Lymphoma / Q000150:complications; D002648:Child; D002675:Child, Preschool; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D017099:IgG Deficiency; D007078:Ileal Neoplasms / Q000150:complications; D007153:Immunologic Deficiency Syndromes / Q000150:complications*; D007244:Infectious Mononucleosis / Q000150:complications / Q000276:immunology*; D008232:Lymphoproliferative Disorders / Q000150:complications / Q000235:genetics*; D008297:Male; D010375:Pedigree