RT Journal Article
SR Electronic
T1 X linked lymphoproliferative disease in a United Kingdom family
JF Archives of Disease in Childhood
JO Arch Dis Child
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP 52
OP 55
DO 10.1136/adc.79.1.52
VO 79
IS 1
A1 Peter D Arkwright
A1 Guy Makin
A1 Andrew M Will
A1 Michelle Ayres
A1 David A Gokhale
A1 William D Fergusson
A1 G Malcolm Taylor
YR 1998
UL http://adc.bmj.com/content/79/1/52.abstract
AB 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.