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X linked lymphoproliferative disease in a United Kingdom family
  1. Peter D Arkwrighta,
  2. Guy Makinc,
  3. Andrew M Willc,
  4. Michelle Ayresb,
  5. David A Gokhaleb,
  6. William D Fergussonb,
  7. G Malcolm Taylorb
  1. aSt Mary’s Hospital, Manchester: Department of Child Health, bImmunogenetics Laboratory, cRoyal Manchester Children’s Hospital, Manchester: Department of Paediatric Oncology/Haematology
  1. Dr G M Taylor, Immunogenetics Laboratory, St Mary’s Hospital, Hathersage Road, Manchester M13 0JH, UK. email: gmtaylor{at}


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.

  • X linked lymphoproliferative disease
  • Epstein-Barr virus
  • bone marrow transplantation
  • restriction fragment length polymorphism

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