ReviewFrontiers in immunology2021
Reversion Mosaicism in Primary Immunodeficiency Diseases.
Review in Frontiers in immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 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.
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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
24 citing papers in PubMed, 32 citations in OpenAlex.
- Article
- Long-term survival in MIRAGE syndrome: Insights into systemic manifestations and management with review of literature.Endocrine journal · 2026Review
- Pathogenic Characterization of a Novel G47R Transthyretin Mutation in Early-Onset Amyloid Cardiomyopathy.Journal of the American Heart Association · 2026Article
- From variants to answers: The evolution of genetic counseling in IEI.Journal of human immunity · 2026Review
- Human LFA-1 governs T cell immune surveillance of the skin.Science immunology · 2026Article
- Somatic reversion in CD137 deficiency correlating with Epstein-Barr virus control and clinical improvement.NPJ genomic medicine · 2025Article
- Incomplete penetrance in inborn errors of immunity: A skeleton in the closet-The sequel.Journal of human immunity · 2025Review
- Allelic bias contributes to heterogeneous phenotypes of NK cell deficiency.Cell reports · 2025Article
- Discordant Restoration of TCR Expression and Function by CD247 Somatic Reversions.Journal of clinical immunology · 2025Article
- Identifying genetic errors of immunity due to mosaicism.The Journal of experimental medicine · 2025Review
- Somatic mosaicism in genetic errors of immunity.The Journal of allergy and clinical immunology · 2025Review
- Somatic mutations in autoinflammatory and autoimmune disease.Nature reviews. Rheumatology · 2024Review
- DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndrome.Clinical immunology (Orlando, Fla.) · 2024Article
- Article
- Pitfalls of genetic testing in a patient with IKBKG deficiency.Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology · 2024Article
- Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti.Journal of clinical immunology · 2024Article
- Principles of clinical genetics for rheumatologists: clinical indications and interpretation of broad-based genetic testing.Advances in rheumatology (London, England) · 2024Review
- Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3.Journal of clinical immunology · 2024Article
- Tissue mosaicism following stem cell aging: blood as an exemplar.Nature aging · 2024Review
- Somatic Genetic Reversion of a Duplication Event in IL2RG in Siblings.Journal of clinical immunology · 2023Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Reversion mosaicism has been reported in an increasing number of genetic disorders including primary immunodeficiency diseases. Several mechanisms can mediate somatic reversion of inherited mutations. Back mutations restore wild-type sequences, whereas second-site mutations result in compensatory changes. In addition, intragenic recombination, chromosomal deletions, and copy-neutral loss of heterozygosity have been demonstrated in mosaic individuals. Revertant cells that have regained wild-type function may be associated with milder disease phenotypes in some immunodeficient patients with reversion mosaicism. Revertant cells can also be responsible for immune dysregulation. Studies identifying a large variety of genetic changes in the same individual further support a frequent occurrence of reversion mosaicism in primary immunodeficiency diseases. This phenomenon also provides unique opportunities to evaluate the biological effects of restored gene expression in different cell lineages. In this paper, we review the recent findings of reversion mosaicism in primary immunodeficiency diseases and discuss its clinical implications.
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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 Socratic graph.