ArticleThe Journal of clinical investigation1998
Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection.
Article in The Journal of clinical investigation, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 143 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
143 citing papers in PubMed, 2 syntheses or guidelines pooled it, 424 citations in OpenAlex.
- Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.The Journal of allergy and clinical immunology · 2024Pooled it
- An Updated Review on MSMD Research Globally and A Literature Review on the Molecular Findings, Clinical Manifestations, and Treatment Approaches in China.Frontiers in immunology · 2022Pooled it
- Oral polio vaccine influences the immune response to BCG vaccination. A natural experiment.PloS one · 2010Trial
- Trial
- Adjuvant interferon gamma in patients with drug - resistant pulmonary tuberculosis: a pilot study.BMC infectious diseases · 2004Trial
- Mycobacterium intracellulare M.i.198-A Promising Strain for Studying Pathogenesis of Nontuberculous Mycobacterial Pulmonary Disease (NTM-PD).Microbiology and immunology · 2026Review
- Nasal Gene Expression in ART-Naive Adults with HIV and Pulmonary Tuberculosis in Uganda.medRxiv : the preprint server for health sciences · 2026Article
- Review
- Anti-IFN-γ Autoantibody Syndrome Presenting with Disseminated Nontuberculous Mycobacteria Infections: A Case Series of Therapeutic Implications and Review of Literature.Tropical medicine and infectious disease · 2025Article
- An activatingScience immunology · 2025Article
- Interferon-Science (New York, N.Y.) · 2024Review
- Deregulation of interferon-gamma receptor 1 expression and its implications for lung adenocarcinoma progression.World journal of clinical oncology · 2024Review
- Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.Journal of clinical immunology · 2024Article
- Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria.Cell · 2023Article
- Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria.Science immunology · 2023Article
- Article
- Inborn Errors of Immunity in Patients with Adverse Events Following BCG Vaccination in Brazil.Journal of clinical immunology · 2022Article
- Role of Interferons inClinics and practice · 2022Review
- IFNγ regulates NAD+ metabolism to promote the respiratory burst in human monocytes.Blood advances · 2022Article
- STAT1 and Its Crucial Role in the Control of Viral Infections.International journal of molecular sciences · 2022Review
83 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
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
IFN-gamma is critical in the immune response to mycobacterial infections, and deficits in IFN-gamma production and response have been associated with disseminated nontuberculous mycobacterial infections. Mutations in the IFN-gamma receptor ligand-binding chain (IFNgammaR1) have been shown to confer susceptibility to severe infection with nontuberculous mycobacteria. However, mutations in the IFN-gamma receptor signal-transducing chain (IFNgammaR2) have not been described. We describe a child with disseminated Mycobacterium fortuitum and M. avium complex infections and absent IFN-gamma signaling due to a mutation in the extracellular domain of IFNgammaR2. In vitro cytokine production by patient PBMCs showed 75% less PHA-induced IFN-gamma production than in normal cells, while patient PHA-induced TNF-alpha production was normal. The normal augmentation of TNF-alpha production when IFN-gamma was added to endotoxin was absent from patient cells. Expression of IFNgammaR1 was normal, but there was no phosphorylation of Stat1 in response to IFN-gamma stimulation. DNA sequence analysis of the gene for IFNgammaR2 showed a homozygous dinucleotide deletion at nucleotides 278 and 279, resulting in a premature stop codon in the protein extracellular domain. This novel gene defect associated with disseminated nontuberculous mycobacterial infection emphasizes the critical role that IFN-gamma plays in host defense against mycobacteria.
Indexed as
Identifiers
What OpenQuestion holds
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.