Event Abstract Back to Event Subgroup of Common Variable Immunodeficiency patients with distinct clinical and biological features revealed by B-cell immunophenotyping Veronika Kanderova1*, Eva Fronkova1, Jan Stuchly1, Marcela Vlkova2, Ivana Hermanova1, Ladislav Krol1, Ondrej Hrusak1, Anna Sediva3, Jiri Litzman2 and Tomas Kalina1 1 Charles University, 2nd Faculty of Medicine, Dpt. Pediatric Hematology/Oncology, Czechia 2 St Anne’s University Hospital and Masaryk University, Faculty of Medicine, Dpt. Clinical Immunology and Allergology, Czechia 3 Charles University, 2nd Faculty of Medicine, Dpt. Immunology, Czechia Common Variable Immunodeficiency (CVID) is characterized by low levels of IgG, IgA, and/or IgM, impaired specific antibody response after antigen challenge and the resulting bacterial infections. Investigation of peripheral blood cellular compartments revealed abnormalities in B- and T-cells. Due to high number of analysed parameters it is difficult to define CVID subgroups that possibly share the same ethiopathological mechanisms. We have compared distribution of cells within all possible immunophenotypes with 8 color flow cytometry and probability binning to reduce CVID heterogeneity. Ninety-eight patients and 47 healthy donors have created hierarchical tree according to B-cell phenotype similarities. The cohort has split into 11 phenotype clusters. B-cell cluster no.5 has been distinguished by aberrant phenotype of T-cells. Cluster 5 CD4+ T-cells have been reduced and presented with decreased proportion of naive cells and increased proportion of intermediate effector memory cells (CD27-CD28+). Increased expression of CD57, PD-1, CD69 and CD70 has suggested a chronic activation but activating cytokine levels have not been elevated. Moreover cluster 5 patients suffer from autoimmunity and splenomegaly. Similar clinical presentation and phenotypic profile have supported the idea that similar pathological mechanism might be responsible for this phenotypically defined subgroup of patients. Whole-exome sequencing has yielded 23 possibly damaging gene alterations (e.g. single-nucleotide polymorphisms) presented in three cluster 5 patients, but not in control samples that are currently being investigated. B-cell profiling of large group of CVID patients revealed subcluster with distinct T-cell profile, clinical presentation and shared germline genetic variations. Acknowledgements NT/11414-5, NT/13271, P302/12/G101, UNCE204012 Keywords: CVID, Immunophenotyping, Probability binning, Cytokines, Whole-exome sequencing Conference: 15th International Congress of Immunology (ICI), Milan, Italy, 22 Aug - 27 Aug, 2013. Presentation Type: Abstract Topic: Immune-mediated disease pathogenesis Citation: Kanderova V, Fronkova E, Stuchly J, Vlkova M, Hermanova I, Krol L, Hrusak O, Sediva A, Litzman J and Kalina T (2013). Subgroup of Common Variable Immunodeficiency patients with distinct clinical and biological features revealed by B-cell immunophenotyping. Front. Immunol. Conference Abstract: 15th International Congress of Immunology (ICI). doi: 10.3389/conf.fimmu.2013.02.00833 Copyright: The abstracts in this collection have not been subject to any Frontiers peer review or checks, and are not endorsed by Frontiers. They are made available through the Frontiers publishing platform as a service to conference organizers and presenters. The copyright in the individual abstracts is owned by the author of each abstract or his/her employer unless otherwise stated. Each abstract, as well as the collection of abstracts, are published under a Creative Commons CC-BY 4.0 (attribution) licence (https://creativecommons.org/licenses/by/4.0/) and may thus be reproduced, translated, adapted and be the subject of derivative works provided the authors and Frontiers are attributed. For Frontiers’ terms and conditions please see https://www.frontiersin.org/legal/terms-and-conditions. Received: 20 Jun 2013; Published Online: 22 Aug 2013. * Correspondence: Dr. Veronika Kanderova, Charles University, 2nd Faculty of Medicine, Dpt. Pediatric Hematology/Oncology, Prague, 15006, Czechia, kanderov@seznam.cz Login Required This action requires you to be registered with Frontiers and logged in. To register or login click here. Abstract Info Abstract The Authors in Frontiers Veronika Kanderova Eva Fronkova Jan Stuchly Marcela Vlkova Ivana Hermanova Ladislav Krol Ondrej Hrusak Anna Sediva Jiri Litzman Tomas Kalina Google Veronika Kanderova Eva Fronkova Jan Stuchly Marcela Vlkova Ivana Hermanova Ladislav Krol Ondrej Hrusak Anna Sediva Jiri Litzman Tomas Kalina Google Scholar Veronika Kanderova Eva Fronkova Jan Stuchly Marcela Vlkova Ivana Hermanova Ladislav Krol Ondrej Hrusak Anna Sediva Jiri Litzman Tomas Kalina PubMed Veronika Kanderova Eva Fronkova Jan Stuchly Marcela Vlkova Ivana Hermanova Ladislav Krol Ondrej Hrusak Anna Sediva Jiri Litzman Tomas Kalina Related Article in Frontiers Google Scholar PubMed Abstract Close Back to top Javascript is disabled. Please enable Javascript in your browser settings in order to see all the content on this page.