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