ReviewThe Journal of experimental medicine2025
Identifying genetic errors of immunity due to mosaicism.
Review in The Journal of experimental medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
8 citing papers in PubMed.
- Mosaic TLR8 gain-of-function in an elderly female treated with JAK inhibitor and adjunctive therapy.Journal of human immunity · 2026Article
- Advancements in Diagnosis and Care for Immune Dysregulation and Inborn Errors of Immunity in Pediatric Rheumatology: Our 50-Year Journey.Arthritis care & research · 2026Review
- Landscape of Somatic Mutations in a Large Cohort of Chinese Patients With Immune Dysregulations.Arthritis & rheumatology (Hoboken, N.J.) · 2026Article
- Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNA.EBioMedicine · 2026Article
- From variants to answers: The evolution of genetic counseling in IEI.Journal of human immunity · 2026Review
- Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.The Journal of allergy and clinical immunology · 2026Article
- ZNF334 truncation mutation drives cold-induced autoinflammation.EMBO molecular medicine · 2025Article
- Rheumatologic and Autoimmune Features of Inborn Errors of Immunity: Implications for Diagnosis and Management.Journal of human immunity · 2025Article
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
Inborn errors of immunity are monogenic disorders of the immune system that lead to immune deficiency and/or dysregulation in patients. Identification of precise genetic causes of disease aids diagnosis and advances our understanding of the human immune system; however, a significant portion of patients lack a molecular diagnosis. Somatic mosaicism, genetic changes in a subset of cells, is emerging as an important mechanism of immune disease in both young and older patients. Here, we review the current landscape of somatic genetic errors of immunity and methods for the detection and validation of somatic variants.
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Registered trials
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