ArticleJournal of clinical immunology2020
Infantile Myelofibrosis and Myeloproliferation with CDC42 Dysfunction.
Article in Journal of clinical immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 31 citations in OpenAlex.
- Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress.Nature communications · 2024Article
- Biological and clinical roles of IL-18 in inflammatory diseases.Nature reviews. Rheumatology · 2024Review
- Different niches for stem cells carrying the same oncogenic driver affect pathogenesis and therapy response in myeloproliferative neoplasms.Nature cancer · 2023Article
- Pediatric Philadelphia-Negative Myeloproliferative Neoplasms in the Era of WHO Classification: A Systematic Review.Diagnostics (Basel, Switzerland) · 2023Review
- Long noncoding RNA SNHG15: A promising target in human cancers.Frontiers in oncology · 2023Review
- Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.Journal of clinical immunology · 2022Article
- Article
- Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1.Blood · 2022Article
- Immune-mediated inflammatory diseases with chronic excess of serum interleukin-18.Frontiers in immunology · 2022Review
- Wnt signaling establishes the microtubule polarity in neurons through regulation of Kinesin-13.The Journal of cell biology · 2021Article
- RHO GTPases: from new partners to complex immune syndromes.Nature reviews. Immunology · 2021Review
- Article
- Progressive decline of T and B cell numbers and function in a patient with CDC42 deficiency.Immunologic research · 2021Article
- Inborn errors of immunity with atopic phenotypes: A practical guide for allergists.The World Allergy Organization journal · 2021Review
- Past, Present, and Future of The Journal of Clinical Immunology, the International Journal of Inborn Errors of Immunity.Journal of clinical immunology · 2020Article
Corrections and comments
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Authors and funding
20 authors at 11 institutions in 1 country.
Funding
Abstract
Studies of genetic blood disorders have advanced our understanding of the intrinsic regulation of hematopoiesis. However, such genetic studies have only yielded limited insights into how interactions between hematopoietic cells and their microenvironment are regulated. Here, we describe two affected siblings with infantile myelofibrosis and myeloproliferation that share a common de novo mutation in the Rho GTPase CDC42 (Chr1:22417990:C>T, p.R186C) due to paternal germline mosaicism. Functional studies using human cells and flies demonstrate that this CDC42 mutant has altered activity and thereby disrupts interactions between hematopoietic progenitors and key tissue microenvironmental factors. These findings suggest that further investigation of this and other related disorders may provide insights into how hematopoietic cell-microenvironment interactions play a role in human health and can be disrupted in disease. In addition, we suggest that deregulation of CDC42 may underlie more common blood disorders, such as primary myelofibrosis.
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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.