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References
Takenouchi T, Kosaki R, Niizuma T, Hata K, Kosaki K. Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: yet another locus for thrombocytopenia and developmental delay. Am J Med Genet A. 2015;167(11):2822–5.
Takenouchi T, Okamoto N, Ida S, Uehara T, Kosaki K. Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia. Am J Med Genet A. 2016;170(4):852–5.
Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, et al. Functional dysregulation of CDC42 causes diverse developmental phenotypes. Am J Hum Genet. 2018 Feb 1;102(2):309–20.
Motokawa M, Watanabe S, Nakatomi A, Kondoh T, Matsumoto T, Morifuji K, et al. A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome. J Hum Genet. 2018 Mar;63(3):387–90.
Uehara T, Suzuki H, Okamoto N, Kondoh T, Ahmad A, O’Connor BC, et al. Pathogenetic basis of Takenouchi-Kosaki syndrome: electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model. Sci Rep. 2019;9(1):1–9.
Gernez Y, de Jesus AA, Alsaleem H, Macaubas C, Roy A, Lovell D, et al. Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1β inhibition. J Allergy Clin Immunol. 2019;144(4):1122–1125.e6.
Lam MT, Coppola S, Krumbach OHF, Prencipe G, Insalaco A, Cifaldi C, et al. A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function. J Exp Med. 2019:jem.20190147.
Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391–405.
Tangye SG, Bucciol G, Casas-Martin J, Pillay B, Ma CS, Moens L, et al. Human inborn errors of the actin cytoskeleton affecting immunity: way beyond WAS and WIP. Immunol Cell Biol. 2019;97(4):389–402.
Chu EY, Freeman AF, Jing H, Cowen EW, Davis J, Su HC, et al. Cutaneous manifestations of DOCK8 deficiency syndrome. Arch Dermatol. 2012;148(1):79–84.
Yang L, Wang L, Kalfa TA, Cancelas JA, Shang X, Pushkaran S, et al. Cdc42 critically regulates the balance between myelopoiesis and erythropoiesis. Blood. 2007;110(12):3853–61.
Calura E, Pizzini S, Bisognin A, Coppe A, Sales G, Gaffo E, et al. A data-driven network model of primary myelofibrosis: transcriptional and post-transcriptional alterations in CD34+ cells. Blood Cancer J. 2016;6(6):e439–9.
Zhang L, Sankaran VG, Lodish HF. MicroRNAs in erythroid and megakaryocytic differentiation and megakaryocyte–erythroid progenitor lineage commitment. Leukemia. 2012;26(11):2310–6.
Acknowledgments
We thank the parents for their trust and the patient for teaching us joy and gratitude. We thank the entire team of clinicians, physiotherapists, and other care providers. Special thanks are given to Kris De Boeck and Myriam Vreys.
Funding
GB is supported by the Research Foundation - Flanders (project G0C8517N). RS is supported by a senior clinical investigator fund of the Research Foundation - Flanders. Research performed in the Tangye/Ma lab is supported by the National Health and Medical Research Council of Australia, and the Office of Health and Medical Research of the New South Wales Government. IM is supported by the Jeffrey Modell Foundation, by the Research Foundation - Flanders (project G0C8517N), and by the CSL Behring Chair in Primary Immunodeficiency in Children. IM and RS are supported by the VIB Grand Challenge Project Primary Immunodeficiencies.
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IM is supported by the CSL Behring Chair in Primary Immunodeficiency in Children, paid to institution. The other authors have no conflict of interest to declare.
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Bucciol, G., Pillay, B., Casas-Martin, J. et al. Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys Mutation. J Clin Immunol 40, 567–570 (2020). https://doi.org/10.1007/s10875-020-00742-5
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DOI: https://doi.org/10.1007/s10875-020-00742-5