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

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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).

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Acknowledgments

This work was supported by the intramural research program of the National Institute of Allergy and Infectious Diseases.

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Authors and Affiliations

  1. Laboratory of Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA

    Jeffrey I. Cohen & Kennichi Dowdell

  2. Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA

    Julie E. Niemela & Jennifer L. Stoddard

  3. Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA

    Stefania Pittaluga & Elaine S. Jaffe

  4. Center for Cell and Gene Therapy, Baylor College of Medicine, The Methodist Hospital and Texas Children’s Hospital, Houston, TX, USA

    Helen Heslop

Authors
  1. Jeffrey I. Cohen
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  2. Julie E. Niemela
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  3. Jennifer L. Stoddard
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  4. Stefania Pittaluga
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  5. Helen Heslop
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  6. Elaine S. Jaffe
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  7. Kennichi Dowdell
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Correspondence to Jeffrey I. Cohen.

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Cohen, J.I., Niemela, J.E., Stoddard, J.L. et al. Late-Onset Severe Chronic Active EBV in a Patient for Five Years with Mutations in STXBP2 (MUNC18-2) and PRF1 (Perforin 1). J Clin Immunol 35, 445–448 (2015). https://doi.org/10.1007/s10875-015-0168-y

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  • DOI: https://doi.org/10.1007/s10875-015-0168-y

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