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Journal of Clinical Immunology
Literature
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Melendez J, Grogg M, Zheng Y. Signaling role of Cdc42 in regulating mammalian physiology. J Biol Chem. 2011;286(4):2375–81.CrossRef
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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;167A(11):2822–5.CrossRef
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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(4):852–5.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;63(3):387–90.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;102(2):309–20.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;216(12):2778–99.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-1beta inhibition. J Allergy Clin Immunol. 2019;144(4):1122–5 e6.CrossRef
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Bucciol G, Pillay B, Casas-Martin J, Delafontaine S, Proesmans M, Lorent N, et al. Systemic inflammation and myelofibrosis in a patient with Takenouchi-Kosaki syndrome due to CDC42 Tyr64Cys mutation. J Clin Immunol. 2020.
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Bekhouche B, Tourville A, Ravichandran Y, Tacine R, Abrami L, Dussiot M, et al. A toxic palmitoylation of Cdc42 enhances NF-kappaB signaling and drives a severe autoinflammatory syndrome. J Allergy Clin Immunol. 2020.
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Szczawinska-Poplonyk A, Ploski R, Bernatowska E, Pac M. A novel CDC42 mutation in an 11-year old child manifesting as syndromic immunodeficiency, autoinflammation, hemophagocytic lymphohistiocytosis, and malignancy: a case report. Front Immunol. 2020;11:318.CrossRef
Metadata
Title
The Growing Spectrum of Human Diseases Caused by InheritedCDC42 Mutations
Authors
Helen C. Su
Jordan S. Orange
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/s10875-020-00785-8

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Journal of Clinical Immunology 4/2020 Go to the issue

Letter to Editor

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

Letter to Editor

Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA)

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Failure to Prevent Severe Graft-Versus-Host Disease in Haploidentical Hematopoietic Cell Transplantation with Post-Transplant Cyclophosphamide in Chronic Granulomatous Disease

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A Case of STK4 Deficiency with Complications Evoking Mycobacterial Infection

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Compound Heterozygous Mutations of IL12RB1 in a Patient with Selective Defects in Th17 Differentiation

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Correction to: the IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic because of a Reinitiation of Translation
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Obesity Clinical Trial Summary

At a glance: The STEP trials

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A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

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