Autoimmune-autoinflammatory rheumatoid arthritis overlaps: A rare but potentially important subgroup of diseases
Por:
Savic, Sinisa, Mistry, Anoop, Wilson, Anthony G., Barcenas-Morales, Gabriela, Doffinger, Rainer, Emery, Paul, McGonagle, Dennis
Publicada:
1 oct 2017
Resumen:
At the population level, rheumatoid arthritis (RA) is generally viewed as autoimmune in nature with a small subgroup of cases having a palindromic form or systemic autoinflammatory disorder (SAID) phenotype. Herein, we describe resistant cases of classical autoantibody associated RA that had clinical, genetic and therapeutic responses indicative of coexistent autoinflammatory disease. Five patients with clinically overlapping features between RA and SAID including polysynovitis and autoantibody/shared epitope positivity, and who had abrupt severe self-limiting attacks including fevers and serositis, are described. Mutations or single nucleotide polymorphisms in recognised autoinflammatory pathways were evident. Generally, these cases responded poorly to conventional Disease-modifying anti-rheumatic drugs (DMARD) treatment with some excellent responses to colchicine or interleukin 1 pathway blockade. A subgroup of RA cases have a mixed autoimmune-autoinflammatory phenotype and genotype with therapeutic implications. © 2017 Article author(s). All rights reserved.
Filiaciones:
Savic, Sinisa:
Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, St James's University Hospital, Leeds, United Kingdom
Department of Clinical Immunology and Allergy, Leeds Teaching Hospitals NHS Trust, St James's University Hospital, Leeds, United Kingdom
NIHR Leeds Biomedical Research Centre, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom
Univ Leeds, St Jamess Univ Hosp, Inst Rheumat & Musculoskeletal Med, Leeds, W Yorkshire, England
Leeds Teaching Hosp NHS Trust, St Jamess Univ Hosp, Dept Clin Immunol & Allergy, Leeds, W Yorkshire, England
Leeds Teaching Hosp NHS Trust, NIHR Leeds Biomed Res Ctr, Leeds, W Yorkshire, England
Mistry, Anoop:
Department of Clinical Immunology and Allergy, Leeds Teaching Hospitals NHS Trust, St James's University Hospital, Leeds, United Kingdom
Leeds Teaching Hosp NHS Trust, St Jamess Univ Hosp, Dept Clin Immunol & Allergy, Leeds, W Yorkshire, England
Wilson, Anthony G.:
UCD School of Medicine and Medical Science, Conway Institute, University College, Dublin, Ireland
Univ Coll, Conway Inst, UCD Sch Med & Med Sci, Dublin, Ireland
Barcenas-Morales, Gabriela:
Laboratorio de Inmunologia, FES-Cuautitlan, UNAM, Cuautitlán Izcalli, Mexico
UNAM, FES Cuautitlan, Lab Inmunol, Cuautitlan, Mexico
Doffinger, Rainer:
Department of Clinical Biochemistry and Immunology, Cambridge University Hospital NHS Trust, Cambridge, United Kingdom
NIHR Cambridge Biomedical Research Centre, Cambridge, United Kingdom
Cambridge Univ Hosp NHS Trust, Dept Clin Biochem & Immunol, Cambridge, England
NIHR Cambridge Biomed Res Ctr, Cambridge, England
Emery, Paul:
Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, St James's University Hospital, Leeds, United Kingdom
NIHR Leeds Biomedical Research Centre, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom
Univ Leeds, St Jamess Univ Hosp, Inst Rheumat & Musculoskeletal Med, Leeds, W Yorkshire, England
Leeds Teaching Hosp NHS Trust, NIHR Leeds Biomed Res Ctr, Leeds, W Yorkshire, England
McGonagle, Dennis:
Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, St James's University Hospital, Leeds, United Kingdom
NIHR Leeds Biomedical Research Centre, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom
Univ Leeds, St Jamess Univ Hosp, Inst Rheumat & Musculoskeletal Med, Leeds, W Yorkshire, England
Leeds Teaching Hosp NHS Trust, NIHR Leeds Biomed Res Ctr, Leeds, W Yorkshire, England
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