2025
Novel heterozygous SPI1c.538C>T p.(Leu180Phe) variant causes PU.1 haploinsufficiency leading to agammaglobulinemia
Daddali R, Kettunen K, Turunen T, Knox A, Laine P, Chowdhury I, Vänttinen M, Mamia N, Stiegler A, Boggon T, Kere J, Romberg N, Seppänen M, Varjosalo M, Martelius T, Grönholm J. Novel heterozygous SPI1c.538C>T p.(Leu180Phe) variant causes PU.1 haploinsufficiency leading to agammaglobulinemia. Clinical Immunology 2025, 277: 110503. PMID: 40294836, DOI: 10.1016/j.clim.2025.110503.Peer-Reviewed Original ResearchConceptsDendritic cell countHeterozygous loss-of-function variantsLoss-of-function variantsCentrosome-associated proteinsFamily transcription factorsEts family transcription factorGene expression patternsAssociated with B cell developmentHematopoietic cell fatePDC countsB cell developmentCell countDisrupts gene expression patternsB-cell countsCell fateCarrier sisterSevere bacterial infectionsTranscription factorsIsolated IgA deficiencyFinnish familiesExpression patternsIn vitro studiesIgA deficiencyVariable penetranceIndex patient
2024
B cell and aquaporin‐4 antibody relationships with neuromyelitis optica spectrum disorder activity
Bennett J, Pittock S, Paul F, Kim H, Irani S, O'Connor K, Patterson K, Smith M, Gunsior M, Mittereder N, Rees W, Cimbora D, Cree B. B cell and aquaporin‐4 antibody relationships with neuromyelitis optica spectrum disorder activity. Annals Of Clinical And Translational Neurology 2024, 11: 2792-2798. PMID: 39222408, PMCID: PMC11514900, DOI: 10.1002/acn3.52171.Peer-Reviewed Original ResearchNeuromyelitis optica spectrum disorderAquaporin-4B cellsAquaporin-4 immunoglobulin GCirculating B cell subsetsAQP4-IgG titerN-MOmentum studyB-cell countsB cell subsetsBaseline to timePost Hoc AnalysisInebilizumab treatmentAQP4-IgGCD20<sup>+</sup>Subset countsGene signatureHoc AnalysisInebilizumabNo differenceImmunoglobulin GNeuromyelitisBaselineDisordered activityTitersSpectrum disorder
2023
B-cell infiltration is associated with survival outcomes following programmed cell death protein 1 inhibition in head and neck squamous cell carcinoma
Gavrielatou N, Fortis E, Spathis A, Anastasiou M, Economopoulou P, Foukas G, Lelegiannis I, Rusakiewicz S, Vathiotis I, Aung T, Tissot S, Kastrinou A, Kotsantis I, Vagia E, Panayiotides I, Rimm D, Coukos G, Homicsko K, Foukas P, Psyrri A. B-cell infiltration is associated with survival outcomes following programmed cell death protein 1 inhibition in head and neck squamous cell carcinoma. Annals Of Oncology 2023, 35: 340-350. PMID: 38159908, DOI: 10.1016/j.annonc.2023.12.011.Peer-Reviewed Original ResearchProlonged progression-free survivalTertiary lymphoid structuresPD-L1 expressionB cellsM HNSCCCell death protein 1 inhibitionPD-1-based immunotherapyNeck squamous cell cancerNeck squamous cell carcinomaHigher B cell countsIncreased B cellsB cell infiltrationB-cell countsPD-L1 positivityProgression-free survivalTreatment of recurrentSquamous cell cancerBlood immune cell compositionSquamous cell carcinomaBiomarkers of responseImmune cell compositionB-cell-associated genesProtein 1 inhibitionCell death proteinMetastatic head
2013
Effect of tofacitinib, a Janus kinase inhibitor, on haematological parameters during 12 weeks of psoriasis treatment
Strober B, Buonanno M, Clark J, Kawabata T, Tan H, Wolk R, Valdez H, Langley R, Harness J, Menter A, Papp K. Effect of tofacitinib, a Janus kinase inhibitor, on haematological parameters during 12 weeks of psoriasis treatment. British Journal Of Dermatology 2013, 169: 992-999. PMID: 23855761, DOI: 10.1111/bjd.12517.Peer-Reviewed Original ResearchConceptsPhase IIb trialJanus kinase inhibitorDose-dependent decreaseTofacitinib 2IIb trialCell countNatural killer cell countsReversible dose-dependent decreaseSevere chronic plaque psoriasisHaematological parametersKinase inhibitorsB-cell countsChronic plaque psoriasisEffects of tofacitinibShort-term administrationClear dose-dependent effectTreatment of psoriasisRed blood cell countBlood cell countWhite blood cellsDose-dependent effectDose-dependent changesHaematology dataPlaque psoriasisLymphocyte count
2008
Limited Efficacy and Unacceptable Toxicity of Cyclophosphamide for the Induction of Mixed Chimerism and Renal Allograft Tolerance in Cynomolgus Monkeys
Sogawa H, Boskovic S, Nadazdin O, Abrahamian G, Colvin R, Sachs D, Cosimi A, Kawai T. Limited Efficacy and Unacceptable Toxicity of Cyclophosphamide for the Induction of Mixed Chimerism and Renal Allograft Tolerance in Cynomolgus Monkeys. Transplantation 2008, 86: 615-619. PMID: 18724233, PMCID: PMC2786005, DOI: 10.1097/tp.0b013e3181821bac.Peer-Reviewed Original ResearchConceptsTotal body irradiationRenal allograft toleranceInduction of mixed chimerismTotal body irradiation groupMixed chimerismAllograft toleranceCynomolgus monkeysCD154 blockadeAbsolute B-cell countNonmyeloablative conditioning regimenB-cell countsB-cell lymphomaToxicity of cyclophosphamideDose-dependent neutropeniaLong-term survivalConditioning regimenNonmyeloablative regimenMultilineage chimerismHematopoietic recoveryBody irradiationToxicity of CPLimited efficacyCyclophosphamideTotal doseChimerism
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