In XLP syndrome, the most striking manifestation is that EBV triggers an initial episode of IM that causes death, usually by liver failure secondary to hepatic necrosis, in more than 50% of infected children. In persons who survive the initial IM, immunodeficiency occurs secondarily, most likely due to virally induced cellular death of components of the immune system. This affects all lymphoid lines, including T lymphocytes, B lymphocytes, and natural killer cells. Hypogammaglobulinemia results, affecting all classes of immunoglobulins. Approximately a third of patients develop lymphoma, usually B-cell non-Hodgkin histologies, although T-cell lymphomas have been reported. More rarely, aplastic anemia or a more benign lymphoproliferative disorder can result.Frequency:
- In the US: The syndrome is rare. Fewer than 400 cases of XLP syndrome in fewer than 100 families have been reported.
Mortality/Morbidity: Fifty-six percent of patients develop fatal IM with ultimate fulminant liver failure. Other patients develop a fatal lymphoma, or they may die of recurrent IM. Few patients survive to adulthood.
Race: No specific ethnic distribution of this disease exists, although not enough patients have been identified internationally to fully evaluate this question.
Sex: Because this is an X-linked disorder, all patients are male.
Age: The median age of onset is approximately 5 years.
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