X-linked lymphoproliferative disorder

X-linked lymphoproliferative disorder

Duncan disease, Epstein-Barr immunodeficiency syndrome, Epstein-Barr virus-induced lymphoproliferative disorder Immunology An X-linked or far less commonly AR–primary immunodeficiency disorder characterized by a defective immune response to EBV infection, resulting in severe, life-threatening infectious mononucleosis–IM, severe hypogammaglobulinemia–ergo ↑ susceptibility to various infections, B-cell lymphomas Clinical Onset between 6 months and 10 yrs of age; ± half of Pts have IM characterized by fever, pharyngitis, lymphadenopathy, splenomegaly, hepatomegaly, abnormal LFTs, jaundice; severe cases may be accompanied by lymphocytic and histiocytic infiltrates with severe liver damage and/or failure, BM replacement, causing aplastic anemia, leukocytopenia, thrombocytopenia; XLP may be accompanied by congenital cardiovascular and CNS defects, Cause of death Hepatitis, immune suppression, B-cell lymphomas