ArticleImmunologic research2009
Revertant somatic mosaicism in the Wiskott-Aldrich syndrome.
Article in Immunologic research, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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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
22 citing papers in PubMed, 54 citations in OpenAlex.
- Somatic mosaicism in genetic errors of immunity.The Journal of allergy and clinical immunology · 2025Review
- Gene editing-based targeted integration for correction of Wiskott-Aldrich syndrome.Molecular therapy. Methods & clinical development · 2024Article
- Genetic Mosaicism as a Cause of Inborn Errors of Immunity.Journal of clinical immunology · 2021Review
- Reversion Mosaicism in Primary Immunodeficiency Diseases.Frontiers in immunology · 2021Review
- Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis.Frontiers in immunology · 2021Article
- Revertant mosaic fibroblasts in recessive dystrophic epidermolysis bullosa.The British journal of dermatology · 2019Article
- Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome.Journal of clinical immunology · 2018Review
- Whole Wiskott‑Aldrich syndrome protein gene deletion identified by high throughput sequencing.Molecular medicine reports · 2017Article
- Recent Advances in DOCK8 Immunodeficiency Syndrome.Journal of clinical immunology · 2016Review
- Signal Integration during T Lymphocyte Activation and Function: Lessons from the Wiskott-Aldrich Syndrome.Frontiers in immunology · 2015Review
- Combined immunodeficiency evolving into predominant CD4+ lymphopenia caused by somatic chimerism in JAK3.Journal of clinical immunology · 2014Article
- Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments.The application of clinical genetics · 2014Review
- Platelets from WAS patients show an increased susceptibility to ex vivo phagocytosis.Platelets · 2013Article
- Article
- Autoimmunity in wiskott-Aldrich syndrome: an unsolved enigma.Frontiers in immunology · 2012Article
- Revertant mosaicism in skin: natural gene therapy.Trends in molecular medicine · 2011Review
- Gene defects in the soma: some get it and some don't!The Journal of clinical investigation · 2011Article
- Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.Science (New York, N.Y.) · 2010Article
- Human hematopoietic stem/progenitor cells modified by zinc-finger nucleases targeted to CCR5 control HIV-1 in vivo.Nature biotechnology · 2010Article
- Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment.Immunology and allergy clinics of North America · 2010Review
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 2 institutions in 1 country.
Funding
Abstract
Up to 11% of patients affected with Wiskott-Aldrich syndrome (WAS) have presented with somatic mosaicism due to spontaneous in vivo reversion to normal of the original mutation or second-site compensatory mutations that restored production of the WAS gene product. The reasons underlying the high prevalence of this phenomenon in WAS are unclear and may include strong selective advantage of revertant cells over mutated populations, abnormally high general mutation rate and/or increased susceptibility of specific WAS gene sequences to DNA polymerase errors. Additional studies in human samples and in vitro/in vivo models of the disease will likely yield further insights into the mechanisms responsible for the occurrence of revertant mosaicism in WAS and elucidate additional biological characteristics of the WAS gene and protein.
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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.