TY - JOUR T1 - Identification of variants in genes associated with autoinflammatory disorders in a cohort of patients with psoriatic arthritis JF - RMD Open JO - RMD Open DO - 10.1136/rmdopen-2022-002561 VL - 8 IS - 2 SP - e002561 AU - Faranaz Atschekzei AU - Natalia Dubrowinskaja AU - Manfred Anim AU - Thea Thiele AU - Torsten Witte AU - Georgios Sogkas Y1 - 2022/09/01 UR - http://rmdopen.bmj.com/content/8/2/e002561.abstract N2 - Objectives Besides adaptive immunity genes, genetic risk factors for psoriatic arthritis (PsA) include innate immunity loci, which suggests an autoinflammatory disease mechanism, at least in a subset of patients. Here, we aimed at investigating the autoinflammatory genetic background of PsA.Methods A total of 120 patients with PsA visiting the outpatient clinics of the Hannover University hospital underwent targeted next-generation sequencing, searching for variations in genes linked with inborn errors of immunity classified as autoinflammatory disorders (AIDs). Deleteriousness of rare variants was evaluated through in silico analysis.Results We found 45 rare predicted deleterious variants in 37 out of 120 (30.8%) patients with PsA. Relatively common were variants in AP1S3, PLCG2, NOD2 and NLRP12. All 45 variants were monoallelic and 25 of them, identified in 20 out of 120 (16.7%) patients, were localised in genes associated with autosomal dominant (AD) disorders. Detection of those variants is associated with pustular psoriasis or a coexisting inflammatory bowel disease (IBD).Conclusions Approximately 30% of patients with PsA harboured at least one variant in a gene associated with an AID, suggesting an autoinflammatory disease mechanism. Detection of variants in genes linked to AD-AIDs may explain extra-articular manifestations of PsA, such as pustular psoriasis and IBD.Data are available upon reasonable request. ER -