2015
TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development
Romberg N, Virdee M, Chamberlain N, Oe T, Schickel JN, Perkins T, Cantaert T, Rachid R, Rosengren S, Palazzo R, Geha R, Cunningham-Rundles C, Meffre E. TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development. Journal Of Allergy And Clinical Immunology 2015, 136: 1315-1325. PMID: 26100089, PMCID: PMC4641026, DOI: 10.1016/j.jaci.2015.05.012.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overAntibody FormationAutoimmunityB-LymphocytesChildCommon Variable ImmunodeficiencyFemaleHaploinsufficiencyHemizygoteHumansImmunologic MemoryLymphocyte ActivationMaleMiddle AgedMutation, MissenseSmith-Magenis SyndromeT-Lymphocytes, RegulatoryTransmembrane Activator and CAML Interactor ProteinYoung AdultConceptsCommon variable immune deficiencyMemory B cellsB cell toleranceB cellsSmith-Magenis syndromeTACI expressionTNFRSF13B mutationsTransmembrane activatorB cell developmentTNF receptorRegulatory T cell functionPeripheral B cell toleranceAntibody-deficient patientsCentral B cell toleranceVariable immune deficiencyT cell functionAutoreactive B cellsNaive B cellsReactivity of antibodiesB cell activationMissense mutationsSingle B cellsAutoimmune featuresImmunologic featuresImmune deficiency
2013
CVID-associated TACI mutations affect autoreactive B cell selection and activation
Romberg N, Chamberlain N, Saadoun D, Gentile M, Kinnunen T, Ng YS, Virdee M, Menard L, Cantaert T, Morbach H, Rachid R, Martinez-Pomar N, Matamoros N, Geha R, Grimbacher B, Cerutti A, Cunningham-Rundles C, Meffre E. CVID-associated TACI mutations affect autoreactive B cell selection and activation. Journal Of Clinical Investigation 2013, 123: 4283-4293. PMID: 24051380, PMCID: PMC3786721, DOI: 10.1172/jci69854.Peer-Reviewed Original ResearchMeSH KeywordsAdultAntibodies, AntinuclearAutoantibodiesB-Cell Activating FactorB-LymphocytesCase-Control StudiesCell ProliferationCells, CulturedCentral ToleranceCommon Variable ImmunodeficiencyDNA-Binding ProteinsGene DosageHeterozygoteHumansLymphocyte ActivationMaleMiddle AgedMutationPeripheral ToleranceProto-Oncogene Proteins c-bcl-6T-Lymphocytes, Helper-InducerToll-Like Receptor 7Toll-Like Receptor 9Transmembrane Activator and CAML Interactor ProteinConceptsCommon variable immune deficiencyB cell activationAutoreactive B cellsTACI mutationsCell activationAntinuclear antibodiesCVID patientsB cellsFollicular helper cellsCentral B cell toleranceVariable immune deficiencyB cell responsivenessB-cell lymphoma 6B cell toleranceTumor necrosis factor receptorNecrosis factor receptorB cell selectionAutoimmune complicationsAutoimmune manifestationsPrimary diseaseAntibody deficiencyImmune toleranceHelper cellsTolerance checkpointsImmune deficiency