PT  - JOURNAL ARTICLE
AU  - Arkwright, Peter D
AU  - Makin, Guy
AU  - Will, Andrew M
AU  - Ayres, Michelle
AU  - Gokhale, David A
AU  - Fergusson, William D
AU  - Taylor, G Malcolm
TI  - X linked lymphoproliferative disease in a United Kingdom family
AID  - 10.1136/adc.79.1.52
DP  - 1998 Jul 01
TA  - Archives of Disease in Childhood
PG  - 52--55
VI  - 79
IP  - 1
4099  - http://adc.bmj.com/content/79/1/52.short
4100  - http://adc.bmj.com/content/79/1/52.full
SO  - Arch Dis Child1998 Jul 01; 79
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.