Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome

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;170A:852–5.

Article  PubMed  Google Scholar 

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;167A:2822–5.

Article  PubMed  Google Scholar 

ClinVar database. CDC42[symbol]. https://www.ncbi.nlm.nih.gov/clinvar/?gr=1&term=CDC42[sym]. Accessed 2 Oct 2022.

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;63:387–90.

Article  CAS  PubMed  Google Scholar 

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;9:4418.

Article  PubMed  PubMed Central  Google Scholar 

Ishikawa K, Uchiyama T, Kaname T, Kawai T, Ishiguro A. Autoimmune hemolytic anemia associated with Takenouchi-Kosaki syndrome. Pediatr Int. 2021;63:1528–30.

Article  PubMed  Google Scholar 

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;216:2778–99.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Daimon E, Shibukawa Y, Thanasegaran S, Yamazaki N, Okamoto N. Macrothrombocytopenia of Takenouchi-Kosaki syndrome is ameliorated by CDC42 specific- and lipidation inhibitors in MEG-01 cells. Sci Rep. 2021;11:17990.8.

Article  Google Scholar 

Noris P, Pecci A. Hereditary thrombocytopenias: a growing list of disorders. Hematology Am Soc Hematol Educ Program. 2017;2017:385–99.

Article  PubMed  PubMed Central  Google Scholar 

Quartier P, Brethon B, Philippet P, Landman-Parker J, Le Deist F, Fischer A. Treatment of childhood autoimmune haemolytic anaemia with rituximab. Lancet. 2001;358:1511–3.

Article  CAS  PubMed  Google Scholar 

Aladjidi N, Leverger G, Leblanc T, Picat MQ, Michel G, Bertrand Y, et al. New insights into childhood autoimmune hemolytic anemia: a French national observational study of 265 children. Haematologica. 2011;96:655–63.

Article  PubMed  PubMed Central  Google Scholar 

Eto K, Kunishima S. Linkage between the mechanisms of thrombocytopenia and thrombopoiesis. Blood. 2016;127:1234–41.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pleines I, Eckly A, Elvers M, Hagedorn I, Eliautou S, Markus B, et al. Multiple alterations of platelet functions dominated by increased secretion in mice lacking CDC42 in platelets. Blood. 2010;115:3364–73.

Article  CAS  PubMed  Google Scholar 

Abdul-Manan N, Aghazadeh B, Liu GA, Majumdar A, Ouerfelli O, Siminovitch KA, et al. Structure of Cdc42 in complex with the GTPase-binding domain of the “Wiskott-Aldrich syndrome” protein. Nature. 1999;399:379–83.

Article  CAS  PubMed  Google Scholar 

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;102:309–20.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lum LG, Tubergen DG, Corash L, Blaese MR. Splenectomy in the management of the thrombocytopenia of the Wiskott-Aldrich syndrome. N Engl J Med. 1980;302:892–6.

Article  CAS  PubMed  Google Scholar 

Glasmacher JS, Bittner TC, Ochs HD, Aiuti A, Arkwright PD, Balashov D, et al. Wiskott-Aldrich syndrome: a retrospective study on 575 patients analyzing the impact of splenectomy, stem cell transplantation, or no definitive treatment on frequency of disease-related complications and physician-perceived quality of life. Blood. 2016;128:366.

Article  Google Scholar 

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