Journal of Clinical Immunology

, Volume 33, Issue 6, pp 1062–1066 | Cite as

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

  • Hannelore I. Bax
  • Alexandra F. Freeman
  • Victoria L. Anderson
  • Per Vesterhus
  • Dan Laerum
  • Stefania Pittaluga
  • Wyndham H. Wilson
  • Steven M. Holland
Astute Clinician Report


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.


B-cell lymphoma interferon gamma receptor deficiency 


Conflict of interest

The authors declare that they have no conflicts of interest.


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Copyright information

© Springer Science+Business Media New York (outside the USA) 2013

Authors and Affiliations

  • Hannelore I. Bax
    • 1
    • 2
  • Alexandra F. Freeman
    • 1
  • Victoria L. Anderson
    • 1
  • Per Vesterhus
    • 3
  • Dan Laerum
    • 4
  • Stefania Pittaluga
    • 5
  • Wyndham H. Wilson
    • 6
  • Steven M. Holland
    • 1
  1. 1.Laboratory of Clinical Infectious DiseasesNational Institute of Allergy and Infectious Diseases, National Institutes of HealthBethesdaUSA
  2. 2.Department of Internal Medicine, Division of Infectious DiseasesErasmus Medical CenterRotterdamthe Netherlands
  3. 3.Department of PaediatricsSorlandet Hospital KristiansandKristiansandNorway
  4. 4.Internal Medicine, Division of PulmonologySorlandet Hospital KristiansandKristiansandNorway
  5. 5.Laboratory of PathologyNational Cancer Institute, NIHBethesdaUSA
  6. 6.Metabolism BranchNational Cancer Institute, NIHBethesdaUSA

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