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Article

Conformational disruption of PI3Kδ regulation by immunodeficiency mutations in PIK3CD and PIK3R1.

Proceedings of the National Academy of Sciences of the United States of America - 21 Feb 2017

Dornan Gillian L, Siempelkamp Braden D, Jenkins Meredith L, Vadas Oscar, Lucas Carrie L, Burke John E

Abstract excerpt

Activated PI3K Delta Syndrome (APDS) is a primary immunodeficiency disease caused by activating mutations in either the leukocyte-restricted p110δ catalytic (PIK3CD) subunit or the ubiquitously expressed p85α regulatory (PIK3R1) subunit of class IA phosphoinositide 3-kinases (PI3Ks). There are two classes of APDS: APDS1 that arises from p110δ mutations that are analogous to oncogenic mutations found in the...

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Identifiers

PMID: 28167755
DOI: 10.1073/pnas.1617244114
PMCID: PMC5338455

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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