Abstracts tagged "Behcet’s syndrome and genetics"

Abstract Number: 1253 • 2019 ACR/ARP Annual Meeting
Novel Nonsense Variant and Entire Deletion of TNFAIP3 Cause Haploinsufficiency of A20 Clinically Distinct from Behçet’s Disease
Naomi Tsuchida¹, Yohei Kirino ¹, Yutaro Soejima ¹, Hideaki Nakajima ¹, Satoko Miyatake ² and Naomichi Matsumoto ², ¹Department of Stem Cell and Immune Regulation, Yokohama City University Graduate School of Medicine, Yokohama, Japan, ²Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Background/Purpose: Haploinsufficiency of A20 (HA20) is caused by loss-of-function TNFAIP3 variants. Phenotypic and genetic features of HA20 remain uncertain; therefore, clinical distinction between HA20 and…
Abstract Number: 2946 • 2016 ACR/ARHP Annual Meeting
Large Scale Genetic Analysis in BehçEt Disease. Identification of Residues Associated in the HLA Class I Region and New Susceptibility Loci
Lourdes Ortiz Fernández¹, Francisco David Carmona², Marco Antonio Montes Cano³, José Raúl García Lozano³, Marta Conde Jaldón⁴, Norberto Ortego Centeno⁵, María Jesús Castillo Palma⁶, Gerard Espinosa⁷, Genaro Graña Gil⁸, Juan Sánchez Bursón Sr.⁹, María Rosa Juliá¹⁰, Roser Solans¹¹, Ricardo Blanco Alonso¹², Ana Celia Barnosi Marín¹³, Ricardo Gómez de la Torre¹⁴, Patricia Fanlo Mateo¹⁵, Mónica Rodriguez Carballeira¹⁶, Luis Rodriguez-Rodriguez¹⁷, Teresa Camps¹⁸, Santos Castañeda¹⁹, Juanjo J Alegre Sancho²⁰, Javier Martín² and María Francisca Gonzalez Escribano²¹, ¹Instituto de Parasitología y Biomedicina "López-Neyra", CSIC, Granada, Spain, ²Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, PTS-Granada, Granada, Spain, ³Departament of Immunology, Hospital Universitario Virgen del Rocío (IBiS,CSIC,US), Sevilla, Spain, ⁴Immunology, Hospital Universitario Virgen del Rocío, Sevilla, Spain, ⁵Systemic Autoimmune Diseases Unit, Hospital Universitario San Cecilio, Granada, Spain, ⁶Department of Internal Medicine, Hospital Universitario Virgen del Rocío, Sevilla, Spain, ⁷Department of Autoimmune Diseases, Hospital Clinic, Barcelona, Spain, ⁸Rheumatology Division, INIBIC-Complejo Hospitalario Universitario A Coruña (CHUAC), A Coruna, Spain, ⁹Rheumatology, Hospital de Valme., Sevilla, Spain, ¹⁰8Department of Immunology, Hospital Universitari Son Espases, Palma de Mallorca, Spain, ¹¹Autoimmune Systemic Diseases Unit, Department of Internal Medicine, Hospital Vall d'Hebron, Autonomous University of Barcelona, Spain, Barcelona, Spain, ¹²Rheumatology, Hospital Universitario Marqués de Valdecilla. IDIVAL, Santander, Spain, ¹³Department of Internal Medicine, Complejo Hospitalario Torrecárdenas, Almeria, Spain, ¹⁴Departament of Internal Medicine, Hospital Universitario Central de Asturias, Asturias, Spain, ¹⁵Department of Internal Medicine, Hospital Virgen del Camino, Pamplona, Spain, ¹⁶Departament of Internal Medicine, Hospital Universitari Mútua Terrassa, Terrasa, Spain, ¹⁷Rheumatology Service, Hospital Clínico San Carlos, Madrid, Spain, ¹⁸Departament of Internal Medicine, Hospital Regional Universitario de Málaga, Málaga, Spain, ¹⁹Rheumatology, Hospital de la Princesa, IIS-IP, Madrid, Spain, ²⁰Department of Rheumatology, Hospital Universitario Doctor Peset, Valencia, Spain, ²¹Hospital Universitario Virgen del Rocío (IBiS,CSIC,US), Sevilla, Spain
Background/Purpose: Behçet’s disease (BD) is a complex immune-mediated vasculitis which aetiology remains unknown although some evidences suggest that certain infectious agents and environmental factors may…
Abstract Number: 899 • 2015 ACR/ARHP Annual Meeting
HA20: A Novel Autoinflammatory Disease Caused By Haploinsufficiency of A20, Encoded By TNFAIP3
Qing Zhou¹, Hongying Wang², Daniella M. Schwartz³, Monique Stoffels⁴, Yong Hwan Park², Yuan Zhang⁵, Erkan Demirkaya⁶, Masaki Takeuchi², Jonathan J. Lyons⁵, Xiaomin Yu⁵, Claudia Ouyang⁷, Amanda K. Ombrello², Deborah L. Stone², Patrycja Hoffmann², Anne Jones², Helen L. Leavis⁸, Annet van Royen-Kerkhof⁸, Ahmet Gül⁹, Seza Ozen¹⁰, Richard Siegel¹¹, Massimo Gadina¹², JaeJin Chae², Ronald Laxer¹³, Daniel L. Kastner² and Ivona Aksentijevich², ¹Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, ²National Human Genome Research Institute, Bethesda, MD, ³Rheumatology fellowship and training branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ⁴National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁵National Institute of Allergy and Infectious Diseases, Bethesda, MD, ⁶Pediatric Rheumatology, Gulhane Military Medical Academy, FMF Arthritis Vasculitis and Orphan disease Research Center (FAVOR),, Ankara, Turkey, ⁷National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ⁸University Medical Center Utrecht, Utrecht, Netherlands, ⁹Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, ¹⁰Pediatric Nephrology and Rheumatology, Hacettepe University, Ankara, Turkey, Ankara, Turkey, ¹¹National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ¹²NIAMS/NIH, Bethesda, MD, ¹³The Hospital for Sick Children, Toronto, ON, Canada
Background/Purpose: We describe a new autoinflammatory syndrome caused by high penetrance heterozygous germline mutations in the NFκB regulatory protein TNFAIP3 (A20) in six unrelated families…

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