X linked lymphoproliferative disease in a United Kingdom family

X linked lymphoproliferative disease (XLP; Duncan’s disease) is a rare disorder affecting boys and characterised by a defective immune response to Epstein- Barr virus caused by a mutation in a gene located at chromosome Xq25. Three siblings with XLP in a single UK family are reported and the variati...

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Bibliographic Details
Published in:Archives of disease in childhood 1998-07, Vol.79 (1), p.52-55
Main Authors: Arkwright, Peter D, Makin, Guy, Will, Andrew M, Ayres, Michelle, Gokhale, David A, Fergusson, William D, Taylor, G Malcolm
Format: Article
Language:English
Subjects:
Age
Biological and medical sciences
Bone marrow
Bone Marrow Transplantation
Chemotherapy
Child
Children & youth
Chromosome Mapping
Chromosomes
Colleges & universities
Cytotoxicity
Death
Disease
Disease Susceptibility
Epstein-Barr virus
Families & family life
Family (Sociological Unit)
Female
Genetic Markers
Genotype & phenotype
Hematologic and hematopoietic diseases
Hepatitis
Herpesvirus 4, Human
Hospitals
Humans
Immune response
Immunoglobulins
Infant
Infections
Infectious Mononucleosis - genetics
Infectious Mononucleosis - therapy
Laboratories
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Lymphocytes
Lymphoproliferative Disorders - genetics
Lymphoproliferative Disorders - therapy
Lymphoproliferative Disorders - virology
Male
Males
Medical prognosis
Medical sciences
Original
Pedigree
Pregnancy
restriction fragment length polymorphism
Siblings
Transplants & implants
X linked lymphoproliferative disease
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Description
Summary:X linked lymphoproliferative disease (XLP; Duncan’s disease) is a rare disorder affecting boys and characterised by a defective immune response to Epstein- Barr virus caused by a mutation in a gene located at chromosome Xq25. Three siblings with XLP in a single UK family are reported and the variation in phenotypic expression of the disease in these siblings described. One of the siblings with life threatening fulminant infectious mononucleosis was successfully treated by chemotherapy, followed by bone marrow transplantation using an unaffected brother as the donor. A healthy baby boy recently born into the family was identified as carrying the defective maternal X chromosome using molecular genetic linkage analysis. This family illustrates the extent of present understanding of this often fatal condition.
ISSN:0003-9888
1468-2044
DOI:10.1136/adc.79.1.52