Associated Papers
CDC42 missense mutations and human diseases: from neurodevelopmental disorders to autoinflammation.
Yasumi T
Journal of Biochemistry, 2025
A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity.
Assing K et al.
Journal of Clinical Immunology, 2023
A CDC42 Stop-loss Mutation in a Patient with Relapsing Polychondritis and Autoinflammation.
van Wijck RTA et al.
Journal of Clinical Immunology, 2023
36040659 (PubMed )
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The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report.
Szczawińska-Popłonyk A et al.
Frontiers in Genetics, 2023
RHO GTPases: from new partners to complex immune syndromes.
El Masri R et al.
Nature Reviews. Immunology, 2021
Small Rho GTPases and their associated RhoGEFs mutations promote immunological defects in primary immunodeficiencies.
Hashim IF et al.
The International Journal of Biochemistry & Cell Biology, 2021
Aplasia cutis congenita in a CDC42-related developmental phenotype.
Schnabel F et al.
American Journal of Medical Genetics. Part A, 2021
Progressive decline of T and B cell numbers and function in a patient with CDC42 deficiency.
Kashani P et al.
Immunologic Research, 2021
The Growing Spectrum of Human Diseases Caused by Inherited CDC42 Mutations.
Su HC et al.
Journal of Clinical Immunology, 2020
A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report.
Szczawinska-Poplonyk A et al.
Frontiers in Immunology, 2020
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