Journal of Clinical Immunology

, Volume 35, Issue 5, pp 445–448 | Cite as

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
Astute Clinician Report


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).


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


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Copyright information

© Springer Science+Business Media New York (outside the USA) 2015

Authors and Affiliations

  • Jeffrey I. Cohen
    • 1
  • Julie E. Niemela
    • 2
  • Jennifer L. Stoddard
    • 2
  • Stefania Pittaluga
    • 3
  • Helen Heslop
    • 4
  • Elaine S. Jaffe
    • 3
  • Kennichi Dowdell
    • 1
  1. 1.Laboratory of Infectious DiseasesNational Institute of Allergy and Infectious Diseases, National Institutes of HealthBethesdaUSA
  2. 2.Department of Laboratory MedicineClinical Center, National Institutes of HealthBethesdaUSA
  3. 3.Laboratory of PathologyNational Cancer Institute, National Institutes of HealthBethesdaUSA
  4. 4.Center for Cell and Gene Therapy, Baylor College of Medicine, The Methodist Hospital and Texas Children’s HospitalHoustonUSA

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