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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.
Diagnosis
Diagnostic recommendations
Additional Information
Diagnostic laboratories
Clinical:
Genetic:
Therapeutic options
- Regular intravenous immunoglobulins should be used for the hypogammaglobulinemia. Early transplantation of allogeneic hematopoietic stem cells prevent EBV and non-EBV related complications in later life. Genetic therapy may be an option in the future.
- Lymphoproliferative Syndrome, X-linked, eMedicine
- Lymphoproliferative disorder, eMedicine