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.
Takenouchi T, Kosaki R, Niizuma T, Hata K, Kosaki K.
Macrothrombocytopenia and developmental delay with a de novoCDC42 mutation: Yet another locus for thrombocytopenia and
developmental delay. Am J Med Genet A 2015;167A: 2822–5.
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.
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 aCaenorhabditis elegans model. Sci Rep 2019;9:4418.
Ishikawa K, Uchiyama T, Kaname T, Kawai T, Ishiguro A. Autoimmune
hemolytic anemia associated with Takenouchi-Kosaki syndrome. Pediatr
Int 2021;63:1528-1530
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.
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
Noris P, Pecci A. Hereditary thrombocytopenias: a growing list of
disorders. Hematology Am Soc Hematol Educ Program 2017;2017:385-399
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.
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.
Eto K and Kunishima S. Linkage between the mechanisms of
thrombocytopenia and thrombopoiesis. Blood 2016;127:1234-41
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.