|
ACTIVATED PI3K-DELTA SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Effective "activated PI3Kδ syndrome"-targeted therapy with the PI3Kδ inhibitor leniolisib.
|
28972011 |
2017 |
|
ACTIVATED PI3K-DELTA SYNDROME
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Our results demonstrate a new influence of PI3K on human T cell differentiation that is unrelated to its lipid-kinase activity and suggest that T<sub>FH</sub> should be monitored in APDS patients.
|
31031754 |
2019 |
|
ACTIVATED PI3K-DELTA SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Activated phosphoinositide 3-kinase δ syndrome (APDS), also known as PASLI disease (p110d-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency) are combined immunodeficiencies resulting from gain-of-function mutations in the genes (<i>PIK3CD</i> and <i>PIK3R1</i>) encoding the subunits of phosphoinositide 3-kinase δ (PI3Kδ) and were first described in 2013.
|
30245694 |
2018 |
|
ACTIVATED PI3K-DELTA SYNDROME
|
0.800 |
Biomarker
|
disease |
BEFREE |
Recently, several studies have identified gain-of-function mutations in the phosphoinositide 3-kinase (PI3K) genes PIK3CD (which encodes p110δ) and PIK3R1 (which encodes p85α) that cause a combined immunodeficiency syndrome, referred to as activated PI3Kδ syndrome (APDS; also known as p110δ-activating mutation causing senescent T cells, lymphadenopathy and immunodeficiency (PASLI)).
|
27616589 |
2016 |
|
ACTIVATED PI3K-DELTA SYNDROME
|
0.800 |
Biomarker
|
disease |
BEFREE |
Autosomal dominant gain-of-function mutations in PIK3R1 encoding for the regulatory subunit (p85α, p55α, and p50α) of Class IA phosphoinositide 3-kinase (PI3K) result in the activated PI3Kδ syndrome (APDS) type 2 characterized by childhood-onset combined immunodeficiency, lymphoproliferation, and immune dysregulation.
|
27116393 |
2016 |
|
ACTIVATED PI3K-DELTA SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Activated PI3K-delta syndrome (APDS) is an immunodeficiency caused by gain-of-function mutations in PIK3CD.
|
30194267 |
2018 |
|
ACTIVATED PI3K-DELTA SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Activated PI3Kδ Syndrome (APDS) is an inherited immune disorder caused by heterozygous, gain-of-function mutations in the genes encoding the phosphoinositide 3-kinase delta (PI3Kδ) subunits p110δ or p85δ.
|
29387064 |
2017 |
|
ACTIVATED PI3K-DELTA SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Activated PI3Kδ syndrome (APDS) Type I results from gain-of-function mutations in PIK3CD, which encodes the p110δ subunit of PI3Kδ.
|
31760094 |
2020 |
|
ACTIVATED PI3K-DELTA SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The activated phosphoinositide 3-kinase δ syndrome (APDS), also known as p110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency (PASLI), is a combined immunodeficiency syndrome caused by gain-of-function mutations in the phosphoinositide 3-kinase (PI3K) genes <i>PIK3CD</i> (encoding p110δ: APDS1 or PASLI-CD) and <i>PIK3R1</i> (encoding p85α: APDS2 or PASLI-R1).
|
29556229 |
2018 |
|
ACTIVATED PI3K-DELTA SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe activated PI3K-δ syndrome (APDS), a PID associated with a dominant gain-of-function mutation in which lysine replaced glutamic acid at residue 1021 (E1021K) in the p110δ protein, the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ), encoded by the PIK3CD gene.
|
24136356 |
2013 |
|
ACTIVATED PI3K-DELTA SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic gain-of-function mutations in the gene encoding phosphoinositide 3-kinase delta (PI3Kδ) cause activated PI3Kδ syndrome (APDS), a disease characterized by humoral immunodeficiency, lymphadenopathy, and an inability to control persistent viral infections including Epstein-Barr virus (EBV) and cytomegalovirus (CMV) infections.
|
29563914 |
2018 |
|
ACTIVATED PI3K-DELTA SYNDROME
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
In this review, we discuss data pertaining to CD8<sup>+</sup> T cell function in APDS/PASLI, including increased cell death, expression of exhaustion markers, and altered killing of autologous EBV-infected B cells, and how these and other data on PI3K provide insight into potential cellular defects that prevent clearance of chronic infections.
|
30116245 |
2018 |
|
ACTIVATED PI3K-DELTA SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Activated PI3K Delta Syndrome (APDS) is a primary immunodeficiency disease caused by activating mutations in either the leukocyte-restricted p110δ catalytic (<i>PIK3CD</i>) subunit or the ubiquitously expressed p85α regulatory (<i>PIK3R1</i>) subunit of class IA phosphoinositide 3-kinases (PI3Ks).
|
28167755 |
2017 |
|
ACTIVATED PI3K-DELTA SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in <i>PIK3CD, PIK3R1</i>, or <i>PTEN</i>, which are related to the hyperactive phosphoinositide 3-kinase (PI3K) signaling, were recently presented to cause APDS1 or APDS2 (APDSs), or APDS-like (APDS-L) disorder.
|
29675019 |
2018 |
|
ACTIVATED PI3K-DELTA SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous gain of function mutations in the gene encoding p110δ subunit of PI3K have been recently associated with activated PI3K-δ syndrome (APDS), a novel combined immune deficiency characterized by recurrent sinopulmonary infections, lymphopenia, reduced class-switched memory B cells, lymphadenopathy, CMV and/or EBV viremia and EBV-related lymphoma.
|
28842185 |
2017 |
|
ACTIVATED PI3K-DELTA SYNDROME
|
0.800 |
Biomarker
|
disease |
BEFREE |
This led to the ongoing clinical trials of selective PI3Kδ inhibitors in APDS patients.
|
29535736 |
2018 |
|
Diffuse Large B-Cell Lymphoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
Furthermore, CUDC-907, a small-molecule dual-acting inhibitor of both class I and II HDACs and class I PI3Ks, effectively suppresses the growth and survival of MYC-altered or MYC-dependent cancer cells, such as DH DLBCL and BRD-NUT fusion-positive NUT midline carcinoma (NMC) cells, and MYC protein downregulation is an early event induced by CUDC-907 treatment.
|
27980108 |
2017 |
|
Diffuse Large B-Cell Lymphoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
In this study, expression of the important components of the phosphatidylinositol 3-kinase (PI3K)/AKT/mammalian target of rapamycin (mTOR) signaling pathway and their clinical significance were investigated in 73 DLBCL cases.
|
23636313 |
2013 |
|
Diffuse Large B-Cell Lymphoma
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
In the present study, we demonstrated that PF-04691502, a novel PI3K/mTOR inhibitor has potent activity in a panel of aggressive B-NHL cell lines including diffuse large B-cell lymphoma (DLBCL) and mantle cell lymphoma (MCL).
|
26549638 |
2016 |
|
Diffuse Large B-Cell Lymphoma
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
PI3Kδ inhibition causes feedback activation of PI3Kα in the ABC subtype of diffuse large B-cell lymphoma.
|
29137222 |
2017 |
|
Diffuse Large B-Cell Lymphoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
Taken together, our results suggest that ROR1 is a novel prognostic marker for DLBCL survival and ROR1 significantly promotes DLBCL tumorigenesis by regulating the PI3K/Akt/mTOR signaling pathway.
|
30801854 |
2019 |
|
Diffuse Large B-Cell Lymphoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
CXCR4 upregulation is an indicator of sensitivity to B-cell receptor/PI3K blockade and a potential resistance mechanism in B-cell receptor-dependent diffuse large B-cell lymphomas.
|
31471373 |
2019 |
|
Diffuse Large B-Cell Lymphoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
However, in preclinical studies, the synergistic effects of PI3K inhibitors and HDAC inhibitors on DLBCL have sparked the enthusiasm of researchers to target both PI3K and HDAC.
|
28756223 |
2017 |
|
Diffuse Large B-Cell Lymphoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
Established DLBCL cell lines were treated with either rituximab or obinutuzumab alone or in combination with PI3K delta inhibitor idelalisib.
|
29617050 |
2018 |
|
Diffuse Large B-Cell Lymphoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
Strong synergism was observed with pimasertib combined with the PI3K inhibitor idelalisib and the BTK inhibitor ibrutinib in cell lines derived from diffuse large B-cell lymphoma (DLBCL) and mantle cell lymphoma.
|
26961147 |
2016 |