Article
Analysis of SH2D1A mutations in patients with severe Epstein-Barr virus infections, Burkitt's lymphoma, and Hodgkin's lymphoma.
Annals of hematology - 1 Aug 2002
Parolini O, Kagerbauer B, Simonitsch-Klupp I, Ambros P, Jaeger U, Mann G, Haas O A, Morra M, Gadner H, Terhorst C, Knapp W, Holter W
Abstract excerpt
Mutations or deletions in the SH2D1A (src homology 2 domain protein 1A) gene result in a severe immunodeficiency called X-linked lymphoproliferative (XLP) disease. XLP is primarily characterized by a defective immune response against the Epstein-Barr virus (EBV), resulting in an unusually severe and often fatal clinical course following EBV infection. The second major cause of death is the development of B cell...
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