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B-Cell Lymphoma in a Patient with Complete Interferon Gamma Receptor 1 Deficiency

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Abstract

Immunosuppression-associated lymphoproliferative disorders can be related to primary as well as acquired immune disorders. Interferon gamma receptor (IFN-γR) deficiency is a rare primary immune disorder, characterized by increased susceptibility to mycobacterial infections. Here we report the first case of an Epstein Barr Virus (EBV) related B-cell lymphoma in a patient with complete IFN-γR1 deficiency. The patient was a 20-year-old man with homozygous 22Cdel in IFNGR1 resulting in complete absence of IFN-γR1 surface expression and complete lack of responsiveness to IFN-γ in vitro. He had disseminated refractory Mycobacterium avium complex and Mycobacterium abscessus infections. At age 18 he presented with new spiking fever and weight loss that was due to an EBV-positive B-cell non-Hodgkin lymphoma. Two years later he died of progressive lymphoma. IFN-γ plays an important role in tumor protection and rejection. Patients with IFN-γR deficiencies and other immune deficits predisposing to mycobacterial disease seem to have an increased risk of malignancies, especially those related to viral infections. As more of these patients survive their early infections, cancer awareness and tumor surveillance may need to become a more routine part of management.

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Conflict of interest

The authors declare that they have no conflicts of interest.

Author information

Authors and Affiliations

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

    Hannelore I. Bax, Alexandra F. Freeman, Victoria L. Anderson & Steven M. Holland

  2. Department of Internal Medicine, Division of Infectious Diseases, Erasmus Medical Center, Rotterdam, the Netherlands

    Hannelore I. Bax

  3. Department of Paediatrics, Sorlandet Hospital Kristiansand, Kristiansand, Norway

    Per Vesterhus

  4. Internal Medicine, Division of Pulmonology, Sorlandet Hospital Kristiansand, Kristiansand, Norway

    Dan Laerum

  5. Laboratory of Pathology, National Cancer Institute, NIH, Bethesda, MD, USA

    Stefania Pittaluga

  6. Metabolism Branch, National Cancer Institute, NIH, Bethesda, MD, USA

    Wyndham H. Wilson

Authors
  1. Hannelore I. Bax
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  2. Alexandra F. Freeman
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  3. Victoria L. Anderson
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  4. Per Vesterhus
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  5. Dan Laerum
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  6. Stefania Pittaluga
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  7. Wyndham H. Wilson
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  8. Steven M. Holland
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Corresponding author

Correspondence to Hannelore I. Bax.

Additional information

Per Vesterhus is deceased.

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Bax, H.I., Freeman, A.F., Anderson, V.L. et al. B-Cell Lymphoma in a Patient with Complete Interferon Gamma Receptor 1 Deficiency. J Clin Immunol 33, 1062–1066 (2013). https://doi.org/10.1007/s10875-013-9907-0

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  • DOI: https://doi.org/10.1007/s10875-013-9907-0

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