Journal 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

Natasha B. Halasa, James A. Whitlock, Thomas L. McCurley, Jarrod A. Smith, Quili Zhu, Hans Ochs, Terence S. Dermody and James E. Crow

in Clinical Infectious Diseases

Published on behalf of Infectious Diseases Society of America

Volume 37, issue 10, pages e136-e141
Published in print November 2003 | ISSN: 1058-4838
Published online November 2003 | e-ISSN: 1537-6591 | DOI: http://dx.doi.org/10.1086/379126
Fatal Hemophagocytic Lymphohistiocytosis Associated with Epstein-Barr Virus Infection in a Patient with a Novel Mutation in the Signaling Lymphocytic Activation Molecule—Associated Protein

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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 in the SAP-encoding SH2D1A gene, including those of 4 additional individuals whose cases have not been described elsewhere. The patient's genetic condition was discovered only after he exhibited an abnormal host response to primary EBV infection that resulted in hemophagocytic lymphohistiocytosis syndrome, which was complicated by marrow aplasia with terminal disseminated aspergillosis.

Journal Article.  3060 words.  Illustrated.

Subjects: Infectious Diseases ; Immunology ; Public Health and Epidemiology ; Microbiology

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