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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 4/2020

01-05-2020 | Hemophagocytic Lymphohistiocytosis | Letter to Editor

Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys Mutation

Authors: Giorgia Bucciol, Bethany Pillay, Jose Casas-Martin, Selket Delafontaine, Marijke Proesmans, Natalie Lorent, Johan Coolen, Thomas Tousseyn, Xavier Bossuyt, Cindy S. Ma, Rik Schrijvers, Stuart G. Tangye, Leen Moens, Isabelle Meyts

Published in: Journal of Clinical Immunology | Issue 4/2020

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Excerpt

To the Editor: …
Appendix
Available only for authorised users
Literature
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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.CrossRef
2.
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.CrossRef
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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.CrossRef
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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.CrossRef
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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.CrossRef
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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.CrossRef
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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.
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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.CrossRef
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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.CrossRef
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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.CrossRef
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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.CrossRef
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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.
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Zhang L, Sankaran VG, Lodish HF. MicroRNAs in erythroid and megakaryocytic differentiation and megakaryocyte–erythroid progenitor lineage commitment. Leukemia. 2012;26(11):2310–6.CrossRef
Metadata
Title
Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys Mutation
Authors
Giorgia Bucciol
Bethany Pillay
Jose Casas-Martin
Selket Delafontaine
Marijke Proesmans
Natalie Lorent
Johan Coolen
Thomas Tousseyn
Xavier Bossuyt
Cindy S. Ma
Rik Schrijvers
Stuart G. Tangye
Leen Moens
Isabelle Meyts
Publication date
01-05-2020
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 4/2020
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-020-00742-5

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