Patients with X-linked lymphoproliferative disease develop a severe and often fatal condition when exposed to Epstein-Barr Virus (EBV).


Synonym: Duncan syndrome


Clinical features:

(1) The syndrome involves males, consistent with X-linked recessive inheritance.

(2) The condition tends to involve members of affected kindreds.

(3) The onset is usually during an initial infection with EBV.

(4) The patient develops severe infectious mononucleosis which may include fulminant hepatitis.

(5) There is overproduction of certain cytokines such as interferon-gamma.


Complications in someone who survives the initial onset may include:

(1) Aplastic anemia may occur in some.

(2) hypogammaglobulinemia

(3) malignant lymphoma


Patients have a mutation in SLAM-associated protein (SAP) and/or SH2 domain protein IA (SH2DIA) genes located at Xq25.


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