ArticleJournal of clinical immunology2016
Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients.
Article in Journal of clinical immunology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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
13 citing papers in PubMed, 23 citations in OpenAlex.
- Clinical recommendations for diagnosis and management of Mendelian susceptibility to mycobacterial disease in resource-limited settings.The journal of allergy and clinical immunology. Global · 2025Article
- Review
- A Novel Combination of Compound Heterozygous Variants in IFNGR1 Causing Complete IFNGR1 Deficiency.Journal of clinical immunology · 2024Article
- Deregulation of interferon-gamma receptor 1 expression and its implications for lung adenocarcinoma progression.World journal of clinical oncology · 2024Review
- Adult-onset Mendelian Susceptibility to Mycobacterial Diseases: A case report and systematic literature review.Heliyon · 2023Review
- DisseminatedJournal of pediatric genetics · 2020Article
- LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency.Journal of clinical immunology · 2019Article
- Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China.Journal of clinical immunology · 2019Article
- Mendelian susceptibility to mycobacterial disease: 2014-2018 update.Immunology and cell biology · 2019Review
- Interferon-γ Receptor 1 Deficiency Corrected by Umbilical Cord Blood Transplantation.Journal of clinical immunology · 2019Article
- The cholesterol biosynthesis pathway regulates IL-10 expression in human Th1 cells.Nature communications · 2019Article
- Post-translational modification of the interferon-gamma receptor alters its stability and signaling.The Biochemical journal · 2017Article
- Germline mutations predisposing to diffuse large B-cell lymphoma.Blood cancer journal · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeComplete interferon-γ receptor 1 (IFN-γR1) deficiency is a primary immunodeficiency causing predisposition to severe infection due to intracellular pathogens. Only 36 cases have been reported worldwide. The purpose of this article is to describe a large novel deletion found in 3 related cases, which resulted in the complete removal of the IFNGR1 gene.
methodsWhole blood from three patients was stimulated with lipopolysaccharide (LPS) and IFN-γ to determine production of tumor necrosis factor (TNF), interleukin-12 p40 (IL-12p40) and IL-10. Expression of IFN-γR1 on the cell membrane of patients' monocytes was assessed using flow cytometry. IFNGR1 transcript was analyzed in RNA and the gene and adjacent regions were analyzed in DNA. Finally, IL22RA2 transcript levels were analyzed in whole blood cells and dendritic cells.
resultsThere was no expression of the IFN-γR1 on the monocytes. Consistent with this finding, there was no IFN-γ response in the whole blood assay as measured by effect on LPS-induced IL-12p40, TNF and IL-10 production. A 119.227 nt homozygous deletion on chromosome 6q23.3 was identified, removing the IFNGR1 gene completely and ending 117 nt upstream of the transcription start of the IL22RA2 gene. Transcript levels of IL22RA2 were similar in patient and control.
conclusionsWe identified the first large genomic deletion of IFNGR1 causing complete IFN-γR1 deficiency. Despite the deletion ending very close to the IL22RA2 gene, it does not appear to affect IL22RA2 transcription and, therefore, may not have any additional clinical consequence.
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.