2020
Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID
Kuhny M, Forbes LR, Çakan E, Vega-Loza A, Kostiuk V, Dinesh RK, Glauzy S, Stray-Pedersen A, Pezzi AE, Hanson IC, Vargas-Hernandez A, Xu ML, Akdemir Z, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Chinn IK, Schatz DG, Orange JS, Meffre E. Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. Journal Of Clinical Investigation 2020, 130: 4411-4422. PMID: 32484799, PMCID: PMC7410074, DOI: 10.1172/jci131297.Peer-Reviewed Original ResearchConceptsB cellsActivation-induced cytidine deaminaseHealthy donor counterpartsIsotype-switched B cellsCommon variable immunodeficiencyMemory B cellsSomatic hypermutationAutoimmune cytopeniasDecreased incidenceVariable immunodeficiencyB cell linesUnderlying molecular defectsNuclear AIDPatient's EBVRamos B cellsPatientsProtein 1Cell linesMolecular defectsCellsCytidine deaminaseMutations
2018
Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses
Romberg N, Le Coz C, Glauzy S, Schickel JN, Trofa M, Nolan BE, Paessler M, Xu M, Lambert MP, Lakhani SA, Khokha MK, Jyonouchi S, Heimall J, Takach P, Maglione PJ, Catanzaro J, Hsu FI, Sullivan KE, Cunningham-Rundles C, Meffre E. Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses. Journal Of Allergy And Clinical Immunology 2018, 143: 258-265. PMID: 29935219, PMCID: PMC6400323, DOI: 10.1016/j.jaci.2018.06.012.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAutoantibodiesBiopsyB-LymphocytesChildCommon Variable ImmunodeficiencyFemaleGerminal CenterHumansHyperplasiaImmunoglobulin GMaleMiddle AgedT-LymphocytesConceptsCommon variable immunodeficiencyVariable immunodeficiencyB cellsCommensal bacteriaIsotype-switched memory B cellsRegulatory T cell frequencyFollicular helper T cellsGC responseIsotype-switched antibodiesT cell frequenciesSubset of patientsT cell compartmentHelper T cellsPeripheral blood samplesMemory B cellsGerminal center responseB cell clonesAutoimmune cytopeniasGC hyperplasiaSerum endotoxemiaExcisional lymphAntibody responseT cellsMucosal microbiotaSomatic hypermutation frequencies