LRBA Deficiency Research Articles

LRBA deficiency in in Mexican patients with common variable immunodeficiency (IRM10P.616)

Abstract CVID is one of the most common primary immunodeficiency diseases and is a diagnosis of exclusion. CVID is characterized by hypogammaglobulinemia and recurrent bacterial infections. About two third of CVID subjects have an autoimmune condition. The etiology of about 80% of CVID remains unknown. Genetic linkage studies in such families have found distinct homozygous mutations in the gene encoding LRBA. Since then, all 11 LRBA deficient CVID subjects identified to date have autoimmune diseases, all patients, except one presented hypogammaglobulinemia. All mutations reported caused the loss or LRBA expression in PBMCs. In this work, we explore the frequency of LRBA deficiency in a cohort of 40 patients with clinical diagnosis of CVID diagnosis, most of which, consanguinity is unknown. Two patients with LRBA deficiency were identified in this cohort. All of the forty patients showed hypogammaglobulinemia. We also correlate the deficiency of LRBA with Freiburg classification from which patients with mutations in LRBA were from group Ia an Ib.

Immunodeficiency and Immunedysregulation – how does this go together? A new concept for antibody deficiencies.

Event Abstract Back to Event Immunodeficiency and Immunedysregulation – how does this go together? A new concept for antibody deficiencies. Bodo Grimbacher1* 1 University Hospital Freiburg, Center for Chronic Immunodeficiency, Germany Patients with recurrent and severe or with unusual infections may suffer from an inborn error of the immune system. Paradoxically, these immune deficiencies often not only predispose to infections, but also to autoimmunity and immune dysregulation. In recent years several monogenetic traits (such as APECED, ALPS, APDS, CTLA4, LRBA, etc.) have been identified predisposing patients to both, immunodeficiency and autoimmunity. In his lecture, Prof. Grimbacher will discuss the pathophysiology underlying these conditions. He will focus on CTLA-4 deficiency and LRBA deficiency and demonstrate what these discoveries have taught us about the immune system. Keywords: immunodeficiency, Immunedysregulation, Autoimmunity, Immune System, Infections Conference: IMMUNOCOLOMBIA2015 - 11th Congress of the Latin American Association of Immunology - 10o. Congreso de la Asociación Colombiana de Alergia, Asma e Inmunología, Medellin, Colombia, 13 Oct - 16 Oct, 2015. Presentation Type: Oral Presentation Topic: Immunodeficiencies Citation: Grimbacher B (2015). Immunodeficiency and Immunedysregulation – how does this go together? A new concept for antibody deficiencies.. Front. Immunol. Conference Abstract: IMMUNOCOLOMBIA2015 - 11th Congress of the Latin American Association of Immunology - 10o. Congreso de la Asociación Colombiana de Alergia, Asma e Inmunología. doi: 10.3389/conf.fimmu.2015.05.00088 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: 22 Apr 2015; Published Online: 14 Sep 2015. * Correspondence: Prof. Bodo Grimbacher, University Hospital Freiburg, Center for Chronic Immunodeficiency, Freiburg, Germany, bodo.grimbacher@uniklinik-freiburg.de 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 Bodo Grimbacher Google Bodo Grimbacher Google Scholar Bodo Grimbacher PubMed Bodo Grimbacher 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.