X-linked lymphoproliferative disease (Duncan disease)

Many boys carrying the defective gene for XLP, before exposure to EBV infection are clinically healthy. After exposure to EBV patients can present: fulminant and often fatal infectious mononucleosis, lymphoproliferative disorders including malignant lymphoma, and dysgammaglobulinemia, pancytopenia. Less frequent manifestations are aplastic anemia, vasculitis, and lymphoid granulomatosis. Several phenotypes (hypogamaglobulinemia, lymphoma, aplastic anemia) may manifest within the XLP patient over time.

Therapeutic options

Research programs, clinical trials