2019
De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette’s Disorder and Autism
Cappi C, Oliphant ME, Péter Z, Zai G, Conceição do Rosário M, Sullivan CAW, Gupta AR, Hoffman EJ, Virdee M, Olfson E, Abdallah SB, Willsey AJ, Shavitt RG, Miguel EC, Kennedy JL, Richter MA, Fernandez TV. De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette’s Disorder and Autism. Biological Psychiatry 2019, 87: 1035-1044. PMID: 31771860, PMCID: PMC7160031, DOI: 10.1016/j.biopsych.2019.09.029.Peer-Reviewed Original Research
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