2025
Decreased T helper 1 cell function underlies recurrent sinopulmonary infections in the 17q12 deletion syndrome
Shin J, Shin H, Gutierrez A, Yoo N, Par-Young J, Osmani L, Shin M, Sanchez-Lara P, Bucala R, Soffer G, Kang I. Decreased T helper 1 cell function underlies recurrent sinopulmonary infections in the 17q12 deletion syndrome. EBioMedicine 2025, 112: 105578. PMID: 39891996, PMCID: PMC11840234, DOI: 10.1016/j.ebiom.2025.105578.Peer-Reviewed Original ResearchConceptsCD4<sup>+</sup> T cellsRecurrent sinopulmonary infectionsT cell functionRNA-seq analysisT cellsHealthy controlsSinopulmonary infectionsRNA-seqT-betIFN-gFrequency of CD4<sup>+</sup> T cellsCD4<sup>+</sup> T cell functionTh1 transcription factor T-betDeletion syndromeFlow cytometryCompared to age-matched healthy controlsTranscription factor T-betDecreased T-betUrinary tract abnormalitiesAge-matched healthy controlsMultiplex assayDownstream effector cytokinesEffector cytokinesRecurrent infectionsTh17 cytokines
2018
Epstein–Barr Virus Susceptibility in Activated PI3Kδ Syndrome (APDS) Immunodeficiency
Carpier JM, Lucas CL. Epstein–Barr Virus Susceptibility in Activated PI3Kδ Syndrome (APDS) Immunodeficiency. Frontiers In Immunology 2018, 8: 2005. PMID: 29387064, PMCID: PMC5776011, DOI: 10.3389/fimmu.2017.02005.Peer-Reviewed Original ResearchPrimary immunodeficiency diseasesAPDS patientsEpstein-Barr virus infectionDefective immunoglobulin productionCell-mediated cytotoxicityRecurrent sinopulmonary infectionsFunction mutationsEBV susceptibilityPI3Kδ syndromeEBV infectionPID patientsLymphoproliferative diseaseSinopulmonary infectionsImmunoglobulin productionB lymphocyte developmentImmune disordersImmunodeficiency diseaseT cellsVirus infectionPatientsLymphocyte biologySenescence markersAntigen receptorGain of functionInfection
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
2014
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
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