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Report on the X‐linked lymphoproliferative disease in an Australian family
Author(s) -
TURNER A. M.,
BERDOUKAS V. A.,
TOBIAS V. H.,
ZIEGLER J. B.,
TOOGOOD I. R.,
MULLEY J. C.,
SKARE J.,
PURTILO D. T.
Publication year - 1992
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1992.tb02639.x
Subject(s) - mononucleosis , proband , cousin , medicine , disease , lymphoma , immunology , sibling , pediatrics , virus , genetics , pathology , mutation , history , archaeology , biology , gene , psychology , developmental psychology
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.