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...

Descripción completa

Detalles Bibliográficos
Autores principales: Szczawinska-Poplonyk, Aleksandra, Ploski, Rafal, Bernatowska, Ewa, Pac, Malgorzata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Immunology
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

Internet

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