|
rs397518423
|
|
|
0.820 |
GeneticVariation |
BEFREE |
To better understand the impact of B cells in this disease, we generated an inducible model of the common APDS mutation (h<i>PIK3CD</i>-E1021K; referred to as aPIK3CD) and intercrossed these mice with B cell-specific Cre models.
|
30194267 |
2018 |
|
rs397518423
|
|
A |
0.820 |
CausalMutation |
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 |
|
rs397518423
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency.
|
26437962 |
2016 |
|
rs397518423
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis.
|
25352054 |
2015 |
|
rs397518423
|
|
A |
0.820 |
CausalMutation |
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 |
|
rs397518423
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility.
|
24610295 |
2014 |
|
rs397518423
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.
|
24136356 |
2013 |
|
rs397518423
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.
|
24136356 |
2013 |
|
rs397518423
|
|
|
0.820 |
GeneticVariation |
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 |
|
rs397518423
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Identification of variations in the human phosphoinositide 3-kinase p110delta gene in children with primary B-cell immunodeficiency of unknown aetiology.
|
16984281 |
2006 |
|
rs28730670
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs587777389
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs587777390
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1017086766
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a previously reported <i>de novo</i> heterozygous pathogenic splice mutation in <i>PIK3R1</i> (c.1425 + 1G > A), resulting in the skipping of exon 11 of the p85α subunit of phosphatidylinositol 3-kinase and causing activated PI3Kδ syndrome type II (APDS2).
|
31781101 |
2019 |
|
rs1267812755
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a previously reported <i>de novo</i> heterozygous pathogenic splice mutation in <i>PIK3R1</i> (c.1425 + 1G > A), resulting in the skipping of exon 11 of the p85α subunit of phosphatidylinositol 3-kinase and causing activated PI3Kδ syndrome type II (APDS2).
|
31781101 |
2019 |