RAC2 and primary human immune deficiencies

Lougaris, Vassilios; Baronio, Manuela; Gazzurelli, Luisa; Benvenuto, Alessio; Plebani, Alessandro

doi:10.1002/jlb.5mr0520-194rr

Cited by 35 publications

(20 citation statements)

References 46 publications

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“…Immune cells and their effector molecules use JAK3 to transmit signals from cell surface to nucleus. As a Ras kinase, RAC2 regulates the classic p21-Raf-MEK-ERK pathway and cooperatively activates interferon gamma production [ 23 , 24 ]. TLR2 was also demonstrated to promote interferon gamma production and then mediate T cell activation [ 25 ].…”

Section: Resultsmentioning

confidence: 99%

Upregulation of the APOBEC3 Family Is Associated with a Poor Prognosis and Influences Treatment Response to Raf Inhibitors in Low Grade Glioma

Luo

Wang

Liao³

et al. 2021

IJMS

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Apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3 (APOBEC3) has been identified as a group of enzymes that catalyze cytosine deamination in single-stranded (ss) DNA to form uracil, causing somatic mutations in some cancers. We analyzed the APOBEC3 family in 33 TCGA cancer types and the results indicated that APOBEC3s are upregulated in multiple cancers and strongly correlate with prognosis, particularly in low grade glioma (LGG). Then we constructed a prognostic model based on family expression in LGG where the APOBEC3 family signature is an accurate predictive model (AUC of 0.85). Gene mutation, copy number variation (CNV), and a differential gene expression (DEG) analysis were performed in different risk groups, and the weighted gene co-expression network analysis (WGCNA) was employed to clarify the role of various members in LGG; CIBERSORT algorithm was deployed to evaluate the landscape of LGG immune infiltration. We found that upregulation of the APOBEC3 family expression can strengthen Ras/MAPK signaling pathway, promote tumor progression, and ultimately reduce the treatment benefits of Raf inhibitors. Moreover, the APOBEC3 family was shown to enhance the immune response mediated by myeloid cells and interferon gamma, as well as PD-L1 and PD-L2 expression, implying that they have immunotherapy potential. Therefore, the APOBEC3 signature enables an efficient assessment of LGG patient survival outcomes and expansion of clinical benefits by selecting appropriate individualized treatment strategies.

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Section: Resultsmentioning

confidence: 99%

Upregulation of the APOBEC3 Family Is Associated with a Poor Prognosis and Influences Treatment Response to Raf Inhibitors in Low Grade Glioma

Luo

Wang

Liao³

et al. 2021

IJMS

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“…RAC2 is a GTpase that is exclusively expressed in hematopoietic cells. Mutations in RAC2 is associated with immunode ciencies in some patients [27].…”

Section: Discussionmentioning

confidence: 99%

Comprehensive Analysis of a lncRNA-miRNA-mRNA Competing Endogenous RNA Network in Heart Failure

X¹,

Lü²,

Jiang³

et al. 2021

Preprint

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Background: Acute heart failure caused by progressive heart failure is a common disease in intensive care units (ICU). The growing incidence rate of heart failure and its high mortality rate result are very important sociosanitary problems. Therefore, it is important to identify the molecular mechanism by which heart failure occurs and to identify treatment for this mechanism. Recently, the mechanism of ceRNA has attracted increasing attention. The aim of the present study was to identify the candidate ceRNA network in the progression of heartfailure.Method: Microarray datasets GSE9128, GSE61741 and GSE77399 were downloaded from Gene Expression Omnibus (GEO) database. The differentially expressed genes (DEGs) were identified, and function enrichment analyses were performed. The protein-protein interaction network (PPI) was constructed and identification of hub-genes was performed using STRING and Cytoscape. Furthermore, according to the ceRNA theory, network of ceRNA was constructed.Result: In the present study, based on the ceRNA theory and above series of analyses, network of ceRNA which include 7 mRNAs (BCL2A1, DUSP1, EGR1, MYC, NR4A2, PTGS2 and RAC2), 3 miRNAs (miR-20a, miR-129-59 and miR-185-5p) and 3 lncRNAs (GAS5, H19 and PCGEM1) were obtained.Conclusion: In conclusion, these findings can be used to carrying on further study to identify the important roles of the ceRNA, biological function, appropriate treatment targets and biomarkers in the progression of heart failure.

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“…To date, only one actinopathy, RAC2 deficiency, has been suggested to be associated with a defect of migration of T cell precursors to the thymus. Depending on the effect of the mutation, RAC2-deficient patients present with severe T cell lymphopenia, suggestive of a defective thymic function ( 111 ). Interestingly, the use of a Rac2-deficient zebrafish model has revealed defective migration of T cell progenitors from the caudal hematopoietic tissue to the thymus ( 63 ), pointing to an early migration defect as the reason for T cell lymphopenia.…”

Section: Motility Defects In Actinopathies At the Organism Levelmentioning

confidence: 99%

Molecular Tuning of Actin Dynamics in Leukocyte Migration as Revealed by Immune-Related Actinopathies

et al. 2021

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Motility is a crucial activity of immune cells allowing them to patrol tissues as they differentiate, sample or exchange information, and execute their effector functions. Although all immune cells are highly migratory, each subset is endowed with very distinct motility patterns in accordance with functional specification. Furthermore individual immune cell subsets adapt their motility behaviour to the surrounding tissue environment. This review focuses on how the generation and adaptation of diversified motility patterns in immune cells is sustained by actin cytoskeleton dynamics. In particular, we review the knowledge gained through the study of inborn errors of immunity (IEI) related to actin defects. Such pathologies are unique models that help us to uncover the contribution of individual actin regulators to the migration of immune cells in the context of their development and function.

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RAC2 and primary human immune deficiencies

Cited by 35 publications

References 46 publications

Upregulation of the APOBEC3 Family Is Associated with a Poor Prognosis and Influences Treatment Response to Raf Inhibitors in Low Grade Glioma

Upregulation of the APOBEC3 Family Is Associated with a Poor Prognosis and Influences Treatment Response to Raf Inhibitors in Low Grade Glioma

Comprehensive Analysis of a lncRNA-miRNA-mRNA Competing Endogenous RNA Network in Heart Failure

Molecular Tuning of Actin Dynamics in Leukocyte Migration as Revealed by Immune-Related Actinopathies

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