Progressive decline of T and B cell numbers and function in a patient with CDC42 deficiency
Author:
Publisher
Springer Science and Business Media LLC
Subject
Immunology
Link
http://link.springer.com/content/pdf/10.1007/s12026-020-09168-y.pdf
Reference22 articles.
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3. Ferru-Clément R, Fresquet F, Norez C, Métayé T, Becq F, et al. Involvement of the Cdc42 pathway in CFTR post-translational turnover and in its plasma membrane stability in airway epithelial cells. PLoS One. 2015;10(3):e0118943. https://doi.org/10.1371/journal.pone.0118943.
4. 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. https://doi.org/10.1002/ajmg.a.37275.
5. 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. https://doi.org/10.1002/ajmg.a.37526.
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2. A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity;Journal of Clinical Immunology;2023-08-15
3. 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;Frontiers in Genetics;2023-06-06
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