ArticleThe Journal of clinical investigation1997
Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis.
Article in The Journal of clinical investigation, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 121 papers, 2 of them syntheses that pooled it.
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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
121 citing papers in PubMed, 2 syntheses or guidelines pooled it, 375 citations in OpenAlex.
- Association between IFNGR1 gene polymorphisms and tuberculosis susceptibility: A meta-analysis.Frontiers in public health · 2022Pooled it
- Pooled it
- Trial
- Adjuvant interferon gamma in patients with drug - resistant pulmonary tuberculosis: a pilot study.BMC infectious diseases · 2004Trial
- Cytotoxic T Cells: Kill, Memorize, and Mask to Maintain Immune Homeostasis.International journal of molecular sciences · 2025Review
- Human LY9 governs CD4Science immunology · 2025Article
- Mycobacterium tuberculosis resisters despite HIV exhibit activated T cells and macrophages in their pulmonary alveoli.The Journal of clinical investigation · 2025Article
- The BCG vaccine, advantages, and disadvantages of introducing new generation vaccines againstClinical and experimental vaccine research · 2024Review
- Deregulation of interferon-gamma receptor 1 expression and its implications for lung adenocarcinoma progression.World journal of clinical oncology · 2024Review
- One species, different diseases: the unique molecular mechanisms that underlie the pathogenesis of typhoidal Salmonella infections.Current opinion in microbiology · 2023Review
- B cells promote granulomatous inflammation during chronic Mycobacterium tuberculosis infection in mice.PLoS pathogens · 2023Article
- Nature and nurture: understanding phenotypic variation in inborn errors of immunity.Frontiers in cellular and infection microbiology · 2023Review
- The Roles of Monocytes and Macrophages in Behçet's Disease With Focus on M1 and M2 Polarization.Frontiers in immunology · 2022Review
- Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child.Nature medicine · 2021Article
- Type I interferon signaling mediates Mycobacterium tuberculosis-induced macrophage death.The Journal of experimental medicine · 2021Article
- Transcriptional Profiling of Human Peripheral Blood Mononuclear Cells Stimulated byFrontiers in cellular and infection microbiology · 2021Article
- Insufficient tuberculosis treatment leads to earlier and higher mortality in individuals co-infected with HIV in southern China: a cohort study.BMC infectious diseases · 2020Article
- Inherited human IFN-γ deficiency underlies mycobacterial disease.The Journal of clinical investigation · 2020Article
- Autoantibodies against cytokines: phenocopies of primary immunodeficiencies?Human genetics · 2020Review
- The monogenic basis of human tuberculosis.Human genetics · 2020Review
61 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Complete interferon-gamma receptor 1 (IFNgammaR1) deficiency has been identified previously as a cause of fatal bacillus Calmette-Guérin (BCG) infection with lepromatoid granulomas, and of disseminated nontuberculous mycobacterial (NTM) infection in children who had not been inoculated with BCG. We report here a kindred with partial IFNgammaR1 deficiency: one child afflicted by disseminated BCG infection with tuberculoid granulomas, and a sibling, who had not been inoculated previously with BCG, with clinical tuberculosis. Both responded to antimicrobials and are currently well without prophylactic therapy. Impaired response to IFN-gamma was documented in B cells by signal transducer and activator of transcription 1 nuclear translocation, in fibroblasts by cell surface HLA class II induction, and in monocytes by cell surface CD64 induction and TNF-alpha secretion. Whereas cells from healthy children responded to even low IFN-gamma concentrations (10 IU/ml), and cells from a child with complete IFNgammaR1 deficiency did not respond to even high IFN-gamma concentrations (10,000 IU/ml), cells from the two siblings did not respond to low or intermediate concentrations, yet responded to high IFN-gamma concentrations. A homozygous missense IFNgR1 mutation was identified, and its pathogenic role was ascertained by molecular complementation. Thus, whereas complete IFNgammaR1 deficiency in previously identified kindreds caused fatal lepromatoid BCG infection and disseminated NTM infection, partial IFNgammaR1 deficiency in this kindred caused curable tuberculoid BCG infection and clinical tuberculosis.
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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.