rs397518423
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
ACTIVATED PI3K-DELTA SYNDROME
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
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
ACTIVATED PI3K-DELTA SYNDROME
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
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
ACTIVATED PI3K-DELTA SYNDROME
A
0.820
CausalMutation
CLINVAR
Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency.
26437962
2016
rs397518423
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
ACTIVATED PI3K-DELTA SYNDROME
A
0.820
CausalMutation
CLINVAR
Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis.
25352054
2015
rs397518423
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
ACTIVATED PI3K-DELTA SYNDROME
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
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
ACTIVATED PI3K-DELTA SYNDROME
A
0.820
CausalMutation
CLINVAR
Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility.
24610295
2014
rs397518423
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
ACTIVATED PI3K-DELTA SYNDROME
A
0.820
CausalMutation
CLINVAR
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.
24136356
2013
rs397518423
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
ACTIVATED PI3K-DELTA SYNDROME
0.820
GeneticVariation
UNIPROT
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.
24136356
2013
rs397518423
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
ACTIVATED PI3K-DELTA SYNDROME
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
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
ACTIVATED PI3K-DELTA SYNDROME
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
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
ACTIVATED PI3K-DELTA SYNDROME
A
0.700
CausalMutation
CLINVAR
rs587777389
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
ACTIVATED PI3K-DELTA SYNDROME
A
0.700
CausalMutation
CLINVAR
rs587777390
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
ACTIVATED PI3K-DELTA SYNDROME
C
0.700
CausalMutation
CLINVAR