Abstracts tagged "Lupus and genetic disorders"

Abstract Number: 2348 • ACR/ARHP Annual Meeting 2017
A New Cause of Mendelian Lupus Due to IKZF1 Mutation Underlines the B Cell Landscape Heterogeneity in Monogenic Lupus
Alexandre Belot^1,2, Cecile Frachette³, Omarjee Sulliman Ommar², Anne-Laure Mathieu², Thibault Andrieu², Paul Mondier², Gillian Rice⁴, Heloise Reumaux⁵, David Launay^6,7, Marc Lambert^8,9, Guillaume Lefevre¹⁰, Nicole Fabien¹¹, Christophe Malcus¹², Isabelle Rouvet¹³, Emilie Chopin¹³, Anne-Sophie Michallet¹⁴, Thierry Defrance¹⁴, Thierry Walzer¹⁴ and Yanick J Crow¹⁵, ¹Pediatric Rheumatology Unit, HFME, Hospices Civils de Lyon, Bron, France, ²U1111, INSERM, Lyon, France, ³Hospices Civils de Lyon, Bron, France, ⁴Manchester Academic Health Science Centre, Institute of Human Development, University of Manchester, Manchester, United Kingdom, ⁵Pediatric Rheumatology, CHRU Lille, Lille, France, ⁶LIRIC, INSERM UMR 995, Lille, France, ⁷Service de Médecine Interne, Centre National de Référence des Maladies Systémiques Rares, Hôpital Claude Huriez, CHRU Lille, Lille, France, ⁸Univ. Lille, U995, Lille Inflammation Research International Center (LIRIC), F-59000 Lille, France, Lille, France, ⁹Medecine Interne Lilloise, Service de médecine interne, Hôpital Claude Huriez, Université Lille II, Lille, France, Lille, France, ¹⁰Internal Medicine, Lille University Hospital, Lille, France, ¹¹Immunology Department, UF d'Autoimmunité, Immunology Department, CHU de Lyon HCL- GH Sud, Lyon, France, ¹²Cellular Immunology Department - Laboratoire d'immunologie cellulaire, Groupement Hospitalier Edouard Herriot, Lyon, France, ¹³Cellular Biotechnology Department, Centre de biologie et pathologie Est, Hospices civils de Lyon, Lyon, France, ¹⁴International Center for Infectiology Research - CIRI, Lyon, France, ¹⁵Institut Imagine, Paris, France
Background/Purpose: Next generation sequencing (NGS) represents a revolution in the field of molecular medicine, and offers a new approach to deciphering the pathogenesis of complex…