ArticleJCI insight2017
MPEG1/perforin-2 mutations in human pulmonary nontuberculous mycobacterial infections.
Article in JCI insight, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
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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.
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Who cites it
25 citing papers in PubMed, 40 citations in OpenAlex.
- Clinical characteristics of pulmonary non-tuberculous mycobacterial disease withBMJ open respiratory research · 2026Article
- Cytotoxic granules and effector molecules from immune cells in tuberculosis: Mechanisms of host defense and therapeutic potential.Virulence · 2025Review
- Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2025Article
- Perforin-2 is dispensable for host defense againstmSphere · 2025Article
- Whole genome sequencing reveals candidate causal genetic variants for spastic syndrome in Holstein cattle.Scientific reports · 2024Article
- Cryo-EM structures of perforin-2 in isolation and assembled on a membrane suggest a mechanism for pore formation.The EMBO journal · 2022Article
- Mpeg1 is not essential for antibacterial or antiviral immunity, but is implicated in antigen presentation.Immunology and cell biology · 2022Article
- Intracellular Staphylococcus aureus triggers pyroptosis and contributes to inhibition of healing due to perforin-2 suppression.The Journal of clinical investigation · 2021Article
- Achromobacter xylosoxidans Pneumonia in a Young Child with Chronic Granulomatous Disease-a Case-Based Review.Journal of clinical immunology · 2021Review
- Non-tuberculous mycobacteria immunopathogenesis: Closer than they appear. a prime of innate immunity trade-off and NTM ways into virulence.Scandinavian journal of immunology · 2021Review
- Breaching the Bacterial Envelope: The Pivotal Role of Perforin-2 (MPEG1) Within Phagocytes.Frontiers in immunology · 2021Review
- Data mining of immune-related prognostic genes in metastatic melanoma microenvironment.Bioscience reports · 2020Article
- Knocking 'em Dead: Pore-Forming Proteins in Immune Defense.Annual review of immunology · 2020Review
- The macrophage-expressed gene (mpeg) 1 identifies a subpopulation of B cells in the adult zebrafish.Journal of leukocyte biology · 2020Article
- To Kill But Not Be Killed: Controlling the Activity of Mammalian Pore-Forming Proteins.Frontiers in immunology · 2020Review
- Structure and mechanism of bactericidal mammalian perforin-2, an ancient agent of innate immunity.Science advances · 2020Article
- The Complicated Evolutionary Diversification of the Mpeg-1/Perforin-2 Family in Cnidarians.Frontiers in immunology · 2020Review
- Ancient but Not Forgotten: New Insights Into MPEG1, a Macrophage Perforin-Like Immune Effector.Frontiers in immunology · 2020Review
- MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin Infections and Considerations for Interferon-γ Therapy.Frontiers in immunology · 2020Article
- Impaired B Cell Function in Mice Lacking Perforin-2.Frontiers in immunology · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
Perforin-2 is a highly conserved pore-forming protein encoded by macrophage expressed gene 1 (MPEG1). A number of studies have shown that Perforin-2-deficient mice are unable to survive following a bacterial challenge that is nonlethal in WT mice. There is also recent evidence that Mpeg1+/- heterozygous mice display an intermediate killing ability compared with Mpeg1 WT and Mpeg1-/- mice. Despite these in vivo findings, to date, no perforin-2 deficiencies have been associated with human disease. Here, we report four patients with persistent nontuberculous mycobacterial infection who had heterozygous MPEG1 mutations. In vitro, neutrophils, macrophages, and B cells from these patients were unable to kill Mycobacterium avium as efficiently as normal controls. CRISPR mutagenesis validated the deleterious antibacterial activity of these mutations. These data suggest that perforin-2 haploinsufficiency may contribute to human susceptibility to infections with intracellular bacteria.
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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.