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X-linked lymphoproliferative syndrome

Peer reviewed by Import UserLast updated by Dr Hayley Willacy, FRCGP Last updated 22 Jun 2011

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Synonyms: XLP, Duncan's disease, familial fatal Epstein-Barr virus infection, Purtilo's syndrome

This X-linked inherited disorder (thus affecting boys) resulting from a defective gene at Xq25 is characterised by a severe susceptibility to Epstein-Barr virus (EBV) infections.1

Following exposure, 75% of patients develop a severe or fatal infectious mononucleosis. Survivors may go on to develop an acquired hypogammaglobulinaema, red cell aplasia, aplastic anaemia or lymphomatoid granulomatosis.23

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Presentation

Patients present in childhood (mean age 3-5 years) with signs of EBV infection:

  • Respiratory: pharyngitis, lymphoid granulomatosis of lung.

  • Abdomen: hepatomegaly, fulminant hepatitis and liver failure, splenomegaly.

  • Haematological: atypical mononucleosis (lymphocytosis); thrombocytopenia or bone marrow failure.

  • CNS: meningitis or encephalitis, hepatic encephalopathy.

Management

Bone marrow transplant is the definitive treatment.45 Transplantation of cord-blood stem cells from an HLA-identical sibling has also been successful.6

There is research into the use of anti-CD20 rituximab (monoclonal antibody) in the acute phase of EBV infection which shows promise, and cytotoxic chemotherapy may also have a role.2

Genetic testing can identify affected individuals and carriers, and antenatal diagnosis is possible.

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Complications

EBV infection can result in hepatic necrosis or bone marrow failure.

Later complications include hypogammaglobulinaemia, malignant lymphoma, aplastic anaemia or haemophagocytic syndrome.

Prognosis

Without transplant, 70% of patients will not survive beyond 10 years of age.1

Further reading and references

  1. X-linked Lymphoproliferative Disorder, Online Mendelian Inheritance in Man (OMIM)
  2. Seiter K et al; Lymphoproliferative Syndrome, X-linked, Medscape, Mar 2011
  3. Purtilo DT, Sakamoto K, Barnabei V, et al; Epstein-Barr virus-induced diseases in boys with the X-linked lymphoproliferative syndrome (XLP): update on studies of the registry. Am J Med. 1982 Jul;73(1):49-56.
  4. Pracher E, Panzer-Grumayer ER, Zoubek A, et al; Successful bone marrow transplantation in a boy with X-linked lymphoproliferative syndrome and acute severe infectious mononucleosis. Bone Marrow Transplant. 1994 May;13(5):655-8.
  5. Hoffmann T, Heilmann C, Madsen HO, et al; Matched unrelated allogeneic bone marrow transplantation for recurrent malignant lymphoma in a patient with X-linked lymphoproliferative disease (XLP). Bone Marrow Transplant. 1998 Sep;22(6):603-4.
  6. Vowels MR, Tang RL, Berdoukas V, et al; Brief report: correction of X-linked lymphoproliferative disease by transplantation of cord-blood stem cells. N Engl J Med. 1993 Nov 25;329(22):1623-5.

Article History

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