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Most of the patients developed a lymphohystiocytosis, related to EBV infection . In addition symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma, splenomegaly.
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