Featured Publications
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K
Lucas CL, Zhang Y, Venida A, Wang Y, Hughes J, McElwee J, Butrick M, Matthews H, Price S, Biancalana M, Wang X, Richards M, Pozos T, Barlan I, Ozen A, Rao VK, Su HC, Lenardo MJ. Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. Journal Of Experimental Medicine 2014, 211: 2537-2547. PMID: 25488983, PMCID: PMC4267241, DOI: 10.1084/jem.20141759.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAlternative SplicingAntibody FormationBase SequenceCatalytic DomainCD8-Positive T-LymphocytesCell DifferentiationChild, PreschoolClass Ia Phosphatidylinositol 3-KinaseEnzyme ActivationExonsFemaleGenes, DominantHeterozygoteHumansImmunologic Deficiency SyndromesLymphoproliferative DisordersMaleMolecular Sequence DataMutationPedigreePhosphatidylinositol 3-KinasesProtein Structure, TertiarySequence DeletionSignal TransductionTelomereTOR Serine-Threonine KinasesConceptsT cellsPI3KPI3K subunitsSenescent T cellsRecurrent sinopulmonary infectionsHeterozygous splice site mutationSplice site mutationEffector cellsPeripheral bloodSinopulmonary infectionsHuman immunodeficiencyHeterozygous splice mutationsImmunodeficiency diseaseHealthy subjectsUnique disorderHeterozygous mutationsClass IaPatient cellsProminent expansionK subunitLymphoproliferationPatientsSimilar diseasesShort telomeresDisease
2016
PI3Kδ and primary immunodeficiencies
Lucas CL, Chandra A, Nejentsev S, Condliffe AM, Okkenhaug K. PI3Kδ and primary immunodeficiencies. Nature Reviews Immunology 2016, 16: 702-714. PMID: 27616589, PMCID: PMC5291318, DOI: 10.1038/nri.2016.93.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCell DifferentiationCellular SenescenceEnzyme ActivationGene Expression RegulationHumansImmune SystemImmunityImmunologic Deficiency SyndromesLymphocyte ActivationLymphocytesMolecular Targeted TherapyMutationPhosphatidylinositol 3-KinasesPhosphoinositide-3 Kinase InhibitorsProtein SubunitsSignal TransductionConceptsPrimary immunodeficiencyT cellsHeterozygous mutationsAntibody replacement therapyStructural lung damageRegulatory T cellsT cell senescencePI3Kδ inhibitor idelalisibRecurrent sinopulmonary infectionsB-cell malignanciesHerpes family virusesMTOR inhibitor rapamycinPI3Kδ syndromeMost patientsLung damageLymphoma trialsReplacement therapyLymphoproliferative diseaseSinopulmonary infectionsAntibody responseP110δ catalytic subunitCell malignanciesB cellsImmune systemPatients