CD27 deficiency
Autoszomális recesszív
Caused by changes in CD27, it leads to persistent EBV infection, overgrowth of lymphocytes and a risk of lymphoma and hemophagocytic lymphohistiocytosis.
Mit változtat a diagnózis
Monitoring for EBV and lymphoma allows early treatment, and a stem cell transplant may be considered.
Vizsgált gének
Más néven
CD27 lymphoproliferative syndrome; CD27-related lymphoproliferative and immune disorder; LPFS2; lymphoproliferative syndrome caused by mutation in CD27
