ArticleJournal of clinical immunology2013
B-cell lymphoma in a patient with complete interferon gamma receptor 1 deficiency.
Article in Journal of clinical immunology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed, 25 citations in OpenAlex.
- Mendelian susceptibility to mycobacterial disease: IFN-γ-driven immunity collapse underlies heterogeneous infections.Frontiers in immunology · 2026Review
- Concomitant autoimmunity and late cancers in adult-onset immunodeficiency due to neutralizing anti-IFN-γ autoantibodies.Frontiers in immunology · 2025Article
- R-CHOP Chemotherapy for DisseminatedOpen forum infectious diseases · 2021Article
- A case of recurrent herpes simplex 2 encephalitis, VZV reactivations, and dominant partial interferon-gamma-receptor-1 deficiency supports relevance of IFNgamma for antiviral defense in humans.Molecular and cellular pediatrics · 2020Article
- DisseminatedJournal of pediatric genetics · 2020Article
- Sensitive detection of EBV microRNAs across cancer spectrum reveals association with decreased survival in adult acute myelocytic leukemia.Scientific reports · 2019Article
- Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China.Journal of clinical immunology · 2019Article
- Loss of Janus Associated Kinase 1 Alters Urothelial Cell Function and Facilitates the Development of Bladder Cancer.Frontiers in immunology · 2019Article
- Germline mutations predisposing to diffuse large B-cell lymphoma.Blood cancer journal · 2017Review
- Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection.Nature communications · 2016Article
- Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients.Journal of clinical immunology · 2016Article
- Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency.Pediatric blood & cancer · 2015Review
- Disseminated Mycobacterium abscessus Infection Following Septic Arthritis: A Case Report and Review of the Literature.Medicine · 2015Article
- Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.Seminars in immunology · 2014Review
- Pineal germinoma in a child with interferon-γ receptor 1 deficiency. case report and literature review.Journal of clinical immunology · 2014Review
- Tumor Restrictions to Oncolytic Virus.Biomedicines · 2014Review
- Article
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Authors and funding
8 authors at 5 institutions in 4 countries.
Funding
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.