Variant: rs397518423 

    present in Gene: PIK3CD
    present in Chromosome: 1
    Position on Chromosome: 9726972
    Alleles of this Variant: G/A

rs397518423 in PIK3CD gene and ACTIVATED PI3K-DELTA SYNDROME PMID 26437962 2016 Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency.

PMID 24136356 2013 Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.

PMID 16984281 2006 Identification of variations in the human phosphoinositide 3-kinase p110delta gene in children with primary B-cell immunodeficiency of unknown aetiology.

PMID 24165795 2014 Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency.

PMID 25352054 2015 Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis.

PMID 24610295 2014 Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility.

PMID 26732860 2017 The case of an APDS patient: Defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment.