About: A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report

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Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
title	A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report
Creator	Pac, Malgorzata Gernez, Yael Leuven, K Szczawinska-Poplonyk, Aleksandra Bernatowska, Ewa Bucciol, Giorgia Ploski, Rafal
source	PMC
abstract	Background: The CDC42 (Cell Division Cycle 42) gene product, CDC42, is a member of the family of small Rho GTPases, which are implicated in a broad spectrum of physiological functions in cell cycle regulation, including establishing and controlling of the cell actin cytoskeleton, vesicle trafficking, cell polarity, proliferation, motility and migration, transcription activation, reactive oxygen species production, and tumorigenesis. The CDC42 gene mutations are associated with distinct clinical phenotypes characterized by neurodevelopmental, growth, hematological, and immunological disturbances. Case presentation: We report the case of an 11-year-old boy with syndromic features, immunodeficiency, and autoinflammation who developed hemophagocytic lymphohistiocytosis and malignant lymphoproliferation. In this patient, a novel heterozygous p.Cys81Tyr mutation in the CDC42 gene was found by whole exome sequencing. Conclusions: The Cdc42 molecule plays a pivotal role in cell cycle regulation and a wide array of tissue-specific functions, and its deregulation may result in a broad spectrum of molecular and cellular dysfunctions, making patients with CDC42 gene mutations susceptible to infections, immune dysregulation, and malignancy. In the patient studied, a syndromic phenotype with facial dysmorphism, neurodevelopmental delay, immunodeficiency, autoinflammation, and hemophagocytic lymphohistiocytosis shares common features with Takenouchi–Kosaki syndrome and with C-terminal variants in CDC42. It is important to emphasize that Hodgkin's lymphoma is described for the first time in the medical literature in a pediatric patient with the novel p.Cys81Tyr mutation in the CDC42 gene. Further studies are required to delineate precisely the CDC42 genotype–phenotype correlations.
has issue date	2020-03-13(xsd:dateTime)
bibo:doi	10.3389/fimmu.2020.00318
has license	cc-by
sha1sum (hex)	41c1d4c7733dff9aeb892d191b9cec9e4d654253
schema:url	https://doi.org/10.3389/fimmu.2020.00318
resource representing a document's title	A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report
has PubMed Central identifier	PMC7082228
schema:publication	Front Immunol
resource representing a document's body	covid:41c1d4c7733dff9aeb892d191b9cec9e4d654253#body_text
is schema:about of	named entity 'Immunodeficiency' named entity 'Child' named entity 'Malignancy' named entity 'Case Report' named entity 'distinctive facial features' named entity 'oncogene' named entity 'NK cells' named entity 'exome sequencing' named entity 'MMR' named entity 'Pathogenic' named entity 'heterogeneity' named entity 'prednisone' named entity 'Pathogenic' named entity 'erythematous' named entity 'vesicle trafficking' named entity 'CDC42' named entity 'cell proliferation' named entity 'Exon' named entity 'interleukin 2' named entity 'NFκB' named entity 'developmental delay' named entity 'CDC42' named entity 'hypertriglyceridemia' named entity 'peripheral blood' named entity 'febrile' named entity 'Pneumocystis jiroveci' named entity 'oncogenic' named entity 'cytokine secretion' named entity 'Staphylococcus aureus infection' named entity 'mutation' named entity 'Pathogenic' named entity 'heterozygous' named entity 'hemophagocytic lymphohistiocytosis' named entity 'facial dysmorphism' named entity 'malignant transformation' named entity 'clinical evaluation' named entity 'CDC42' named entity 'methylprednisolone' named entity 'broad spectrum antibiotics' named entity 'CDC42' named entity 'camptodactyly' named entity 'BCG' named entity 'magnetic resonance imaging' named entity 'lower extremities' named entity 'heterozygous' named entity 'antiviral' named entity 'CDC42' named entity 'CDC42' named entity 'cyclosporine' named entity 'cell biology' named entity 'Bacille Calmette-Guerin' named entity 'cardiovascular' named entity 'gene mutation' named entity 'cellular pathways' named entity 'Bioinformatics' named entity 'positron' named entity 'heterogeneity' named entity 'Mediterranean' named entity 'Hodgkin's' named entity 'inferior vena cava' named entity 'immune systems' named entity 'lymphoproliferation' named entity 'intellectual disability' named entity 'vincristine' named entity 'serum' named entity 'abdomen' named entity 'phenotype' named entity 'GTPase' named entity 'lymphoma' named entity 'CDC42' named entity 'lymph nodes' named entity 'infection' named entity 'perioral' named entity 'perforin' named entity 'IgG' named entity 'gene' named entity 'antibody'

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