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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.
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.[2, 3]
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.
Bone marrow transplant is the definitive treatment.[4, 5] Transplantation of cord-blood stem cells from an HLA-identical sibling has also been successful.
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.
Genetic testing can identify affected individuals and carriers, and antenatal diagnosis is possible.
Without transplant, 70% of patients will not survive beyond 10 years of age.
Further reading and references
Arkwright PD, Makin G, Will AM, et al; X linked lymphoproliferative disease in a United Kingdom family. Arch Dis Child. 1998 Jul79(1):52-5.
Seiter K et al; Lymphoproliferative Syndrome, X-linked, Medscape, Mar 2011
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 Jul73(1):49-56.
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 May13(5):655-8.
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 Sep22(6):603-4.
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 25329(22):1623-5.