Cargando…
A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report
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...
Autores principales: | Szczawinska-Poplonyk, Aleksandra, Ploski, Rafal, Bernatowska, Ewa, Pac, Malgorzata |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7082228/ https://www.ncbi.nlm.nih.gov/pubmed/32231661 http://dx.doi.org/10.3389/fimmu.2020.00318 |
Ejemplares similares
-
Cytomegalovirus pneumonia as the first manifestation of severe combined immunodeficiency
por: Szczawińska-Popłonyk, Aleksandra, et al.
Publicado: (2014) -
Autoinflammation and immunodeficiency
por: Frenkel, Joost
Publicado: (2014) -
The patients’ organisations of children with primary immunodeficiency in Poland
por: Bernatowska, Ewa, et al.
Publicado: (2010) -
Immune Dysregulation in Pediatric Common Variable Immunodeficiency: Implications for the Diagnostic Approach
por: Szczawińska-Popłonyk, Aleksandra, et al.
Publicado: (2022) -
A CDC42 Stop-loss Mutation in a Patient with Relapsing Polychondritis and Autoinflammation
por: van Wijck, Rogier T. A., et al.
Publicado: (2022)