Article
Fatal hemophagocytic lymphohistiocytosis associated with Epstein-Barr virus infection in a patient with a novel mutation in the signaling lymphocytic activation molecule-associated protein.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America - 15 Nov 2003
Halasa Natasha B, Whitlock James A, McCurley Thomas L, Smith Jarrod A, Zhu Quili, Ochs Hans, Dermody Terence S, Crowe James E
Abstract excerpt
Individuals with X-linked lymphoproliferative disease are susceptible to severe Epstein-Barr virus (EBV) infections that are often fatal. Mutations in signaling lymphocytic activation molecule-associated protein (SAP) are associated with this illness. We describe a patient with a novel serine-to-proline mutation at aa 57 in SAP and compare the location of the altered amino acid with all known missense mutations...
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