Improving Diagnosis and Clinical Management of Acquired Systemic Autoinflammatory Diseases

Abstract

Adam Al-Hakim,1 Anoop Mistry,1 Sinisa Savic1,2 1Department of Clinical Immunology and Allergy, St James’s University Hospital, Leeds, UK; 2Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds, UKCorrespondence: Sinisa Savic, Leeds Institute of Rheumatic and Musculoskeletal Medicine, Clinical Science Building, St James’s University Hospital, Leeds, LS9 7TF, UK, Tel [phone], Email [email protected]: Systemic autoinflammatory diseases (SAID) are conditions caused by dysregulation or disturbance of the innate immune system, with neutrophils and macrophages the main effector cells. Although there are now more than 40 distinct, genetically defined SAIDs, the genetic/molecular diagnosis remains unknown for a significant proportion of patients with the disease onset in adulthood. This review focuses on new developments related to acquired/late onset SAID, including phenocopies of monogenic disorders, Schnitzler’s syndrome, Adult onset Still’s disease, VEXAS syndrome, and autoinflammatory complications associated with myelodysplastic syndrome.Keywords: autoinflammation, adult onset Still’s disease, inflammasome, VEXAS, Schnitzler’s syndrome

Keywords

• autoinflammation
• adult onset still’s disease
• inflammasome
• vexas
• schnitzler’s syndrome