Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
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
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
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
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
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
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
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
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
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
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
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
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
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
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME
0.800 Biomarker disease GENOMICS_ENGLAND Respiratory Manifestations of the Activated Phosphoinositide 3-Kinase Delta Syndrome. 29556229 2018
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
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
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
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
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME
0.800 GeneticVariation disease BEFREE Effective "activated PI3Kδ syndrome"-targeted therapy with the PI3Kδ inhibitor leniolisib. 28972011 2017
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME
0.800 CausalMutation disease CLINVAR The case of an APDS patient: Defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment. 26732860 2017
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
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
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
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
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
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
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
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
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
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
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME
0.800 CausalMutation disease CLINVAR Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency. 26437962 2016
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME
0.800 CausalMutation disease CLINVAR Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis. 25352054 2015
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME
0.800 CausalMutation disease CLINVAR Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility. 24610295 2014
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME
0.800 CausalMutation disease CLINVAR Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency. 24165795 2014
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME
0.800 Biomarker disease GENOMICS_ENGLAND Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency. 24165795 2014
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME
0.800 Biomarker disease GENOMICS_ENGLAND Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. 24136356 2013
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME
0.800 GeneticVariation disease UNIPROT Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. 24136356 2013
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME
0.800 GermlineCausalMutation disease ORPHANET Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. 24136356 2013