Fatal hemophagocytic lymphohistiocytosis associated with Epstein-Barr virus infection in a patient with a novel mutation in the signaling lymphocytic activation molecule-associated protein.

Halasa NB, Whitlock JA, McCurley TL, Smith JA, Zhu Q, Ochs H, Dermody TS, Crowe JE
Clin Infect Dis. 2003 37 (10): e136-41

PMID: 14583885 · DOI:10.1086/379126

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.

MeSH Terms (13)

Adolescent Carrier Proteins Chromosomes, Human, X Epstein-Barr Virus Infections Herpesvirus 4, Human Histiocytosis, Non-Langerhans-Cell Humans Intracellular Signaling Peptides and Proteins Male Mutation Proline Serine Signaling Lymphocytic Activation Molecule Associated Protein

Connections (2)

This publication is referenced by other Labnodes entities:

Links