2021
Infections in activated PI3K delta syndrome (APDS)
Brodsky NN, Lucas CL. Infections in activated PI3K delta syndrome (APDS). Current Opinion In Immunology 2021, 72: 146-157. PMID: 34052541, DOI: 10.1016/j.coi.2021.04.010.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsPI3K delta syndromeHematopoietic stem cell transplantAnti-microbial prophylaxisPI3K-delta syndromeStem cell transplantSenescent T cellsSpectrum of infectionsAdaptive immune functionAutosomal dominant disorderCell transplantImmune defectsImmunoglobulin replacementRecurrent infectionsImmunomodulatory agentsTherapy optionsT cellsImmune functionInfection susceptibilityInborn errorsDominant disorderInfectionLymphadenopathyPatientsFunction mutationsImmunodeficiency
2017
Conformational disruption of PI3Kδ regulation by immunodeficiency mutations in PIK3CD and PIK3R1
Dornan GL, Siempelkamp BD, Jenkins ML, Vadas O, Lucas CL, Burke JE. 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 2017, 114: 1982-1987. PMID: 28167755, PMCID: PMC5338455, DOI: 10.1073/pnas.1617244114.Peer-Reviewed Original ResearchMeSH KeywordsCatalytic DomainCell MembraneClass I Phosphatidylinositol 3-KinasesClass Ia Phosphatidylinositol 3-KinaseEnzyme AssaysEnzyme InhibitorsGain of Function MutationHumansImmunologic Deficiency SyndromesMass SpectrometryModels, MolecularPhenotypePhosphatidylinositol 3-KinasesPrimary Immunodeficiency DiseasesProtein ConformationPurinesQuinazolinonesRandomized Controlled Trials as TopicSequence DeletionConceptsRegulatory subunitCatalytic subunitClass IA catalytic subunitsHydrogen-deuterium exchange mass spectrometryOncogenic mutationsP85 regulatory subunitExchange mass spectrometryClass IA phosphoinositideP85α regulatory subunitPI3K delta syndromeCSH2 domainMolecular basisP110δ catalytic subunitMolecular mechanismsBiochemical assaysSubunits