Late-Onset Severe Chronic Active EBV in a Patient for Five Years with Mutations in STXBP2 (MUNC18-2) and PRF1 (Perforin 1)

Jeffrey I. Cohen, Julie E. Niemela, Jennifer L. Stoddard, Stefania Pittaluga, Helen Heslop, Elaine S. Jaffe, Kennichi Dowdell

Research output: Contribution to journalArticle

15 Scopus citations

Abstract

Severe chronic active Epstein-Barr virus (CAEBV) disease is defined as a severe progressive illness lasting 6 months or longer with infiltration of tissues with EBV-positive lymphocytes, markedly elevated levels of EBV DNA in the blood, and no known immunodeficiency such as HIV. These patients usually have fever, splenomegaly, lymphadenopathy, and may have markedly elevated EBV antibody titers to viral capsid antigen. Although the cause of most cases of severe CAEBV is unknown, one well-documented case was associated with compound heterozygous mutations in PRF1 (perforin 1). Here we report a patient with prolonged severe CAEBV who underwent bone marrow transplant for his disease and subsequently was found to have compound heterozygous mutations in STXBP2 (MUNC18-2) as well as a heterozygous mutation in PRF1 (perforin 1).

Original languageEnglish (US)
Pages (from-to)445-448
Number of pages4
JournalJournal of Clinical Immunology
Volume35
Issue number5
DOIs
StatePublished - Jul 25 2015

Keywords

  • Epstein-Barr virus
  • MUNC18-2
  • STXBP2
  • chronic active Epstein-Barr virus
  • perforin 1

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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